Variant report

Variant	rs183211
Chromosome Location	chr17:44788310-44788311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44787498..44790449-chr17:44797075..44799216,2	MCF-7	breast:

Extended variants
information (count: 228 )
Associated
traits (count: 91 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10491141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[ASN][1000 genomes]
rs12325819	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[ASN][1000 genomes]
rs12452215	0.91[ASN][1000 genomes]
rs12603920	0.94[ASN][1000 genomes]
rs12937492	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12947457	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[ASN][1000 genomes]
rs142167	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169201	0.94[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs16941674	0.95[ASN][1000 genomes]
rs17692129	0.89[JPT][hapmap]
rs199436	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs199438	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199439	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs199442	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs199443	0.89[CEU][hapmap]
rs199444	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs199445	0.89[CEU][hapmap]
rs199446	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs199448	0.89[CEU][hapmap]
rs199449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs199451	0.89[CEU][hapmap]
rs199452	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199454	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199456	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs199457	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs199498	0.86[GIH][hapmap]
rs199501	0.94[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs199505	0.83[CEU][hapmap]
rs199506	0.84[CEU][hapmap]
rs199507	0.82[CEU][hapmap]
rs199508	0.83[EUR][1000 genomes]
rs199509	0.84[CEU][hapmap]
rs199513	0.84[CEU][hapmap]
rs199514	0.84[CEU][hapmap]
rs199515	0.84[CEU][hapmap]
rs199516	0.84[CEU][hapmap]
rs199517	0.88[ASN][1000 genomes]
rs199518	0.88[ASN][1000 genomes]
rs199519	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs199520	0.94[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs199521	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs199523	0.91[ASN][1000 genomes]
rs199524	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs199526	0.91[ASN][1000 genomes]
rs199527	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs199528	0.84[CEU][hapmap]
rs199529	0.81[EUR][1000 genomes]
rs199530	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs199531	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs199533	0.89[CEU][hapmap]
rs199534	0.89[CEU][hapmap]
rs199535	0.89[CEU][hapmap]
rs199536	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2316278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[ASN][1000 genomes]
rs34565941	0.98[ASN][1000 genomes]
rs34720194	0.99[ASN][1000 genomes]
rs35937770	0.89[JPT][hapmap]
rs4141293	0.90[ASN][1000 genomes]
rs415430	0.84[CEU][hapmap]
rs4246416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4968239	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs538628	0.89[CEU][hapmap]
rs62074082	0.90[ASN][1000 genomes]
rs6503809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[ASN][1000 genomes]
rs67143796	0.90[ASN][1000 genomes]
rs67474242	0.91[ASN][1000 genomes]
rs70602	0.84[CEU][hapmap]
rs7216231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7224296	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7226263	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs72628337	0.90[ASN][1000 genomes]
rs72628338	0.82[ASN][1000 genomes]
rs757190	0.80[JPT][hapmap]
rs8065602	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[ASN][1000 genomes]
rs9896243	0.89[CEU][hapmap]
rs9902077	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9912530	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431716	chr17:43893020-44868187	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2751685	chr17:44004972-44789317	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv431717	chr17:44075901-44809001	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv431718	chr17:44094463-44873614	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv516807	chr17:44109474-44793283	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv543359	chr17:44132076-44792529	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv2751691	chr17:44139662-44795190	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	esv2751692	chr17:44139662-44811116	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	esv2751694	chr17:44139682-44789285	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	esv2751695	chr17:44139682-44801340	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
11	nsv908315	chr17:44140748-44788310	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv543362	chr17:44141175-44792529	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	esv2751697	chr17:44144214-44796777	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv431730	chr17:44144214-44826056	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv431729	chr17:44144214-44869063	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
16	nsv543364	chr17:44151408-44792529	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
17	esv2751705	chr17:44157581-44811116	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv431750	chr17:44157597-44789285	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
19	nsv543365	chr17:44159802-44806240	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
20	esv2751732	chr17:44162284-44795234	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
21	esv2751733	chr17:44162284-44795234	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
22	esv2757660	chr17:44162284-44868187	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
23	esv2751734	chr17:44162597-44796777	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
24	esv2751735	chr17:44162597-44811116	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
25	nsv543366	chr17:44165725-44806240	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
26	nsv543367	chr17:44165725-44811728	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
27	esv2751741	chr17:44165782-44789285	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	esv2751742	chr17:44165782-44789285	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
29	nsv431788	chr17:44165782-44795190	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
30	nsv431796	chr17:44165782-44811116	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
31	esv2751747	chr17:44165803-44789285	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
32	esv2751748	chr17:44165803-44789285	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
33	nsv1060227	chr17:44165803-44790799	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
34	esv2751749	chr17:44165803-44795190	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
35	esv2751750	chr17:44165803-44795234	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
36	nsv431805	chr17:44165803-44868430	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
37	nsv431831	chr17:44166500-44796777	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
38	esv2751756	chr17:44166500-44811116	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
39	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
40	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
41	nsv543369	chr17:44223908-44792529	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
42	nsv543373	chr17:44223908-44792529	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
43	nsv543375	chr17:44223908-44792529	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
44	nsv543376	chr17:44223908-44792529	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
45	nsv1063228	chr17:44223908-44794743	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
46	nsv543370	chr17:44223908-44811032	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
47	nsv431902	chr17:44223908-44811116	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
48	nsv543371	chr17:44223908-44820220	Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
49	nsv543374	chr17:44223908-44824353	Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
50	nsv916432	chr17:44223908-44873614	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Ovarian cancer in BRCA1 mutation carriers	23544013	GWAS catalog
Parkinson's disease	21812969	GWAS catalog

mRNA abundance (count:89)

SNP	Gene	Cis/trans	Tissue	Source
rs183211	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs183211	RP11-259G18.2	cis	Heart Left Ventricle	GTEx
rs183211	FMNL1	cis	cerebellum	SCAN
rs183211	LRRC37A2	cis	Nerve Tibial	GTEx
rs183211	LRRC37A	cis	Frontal Cortex	GTEx
rs183211	KANSL1-AS1	cis	Stomach	GTEx
rs183211	LOC644246///LOC649063	cis	lesional skin	skin_eQTL
rs183211	LRRC37A2	cis	Muscle Skeletal	GTEx
rs183211	SP6	cis	cerebellum	SCAN
rs183211	RP11-259G18.2	cis	Muscle Skeletal	GTEx
rs183211	KRT26	cis	cerebellum	SCAN
rs183211	RP11-259G18.3	cis	Artery Aorta	GTEx
rs183211	KIAA1267	cis	uninvolved skin	skin_eQTL
rs183211	BRCA1	cis	parietal	SCAN
rs183211	KANSL1-AS1	cis	Esophagus Muscularis	GTEx
rs183211	KANSL1-AS1	cis	Nerve Tibial	GTEx
rs183211	RP11-259G18.2	cis	Artery Tibial	GTEx
rs183211	LRRC37A2	cis	Artery Tibial	GTEx
rs183211	LRRC37A2	cis	Thyroid	GTEx
rs183211	RP11-259G18.3	cis	Heart Left Ventricle	GTEx
rs183211	GJC1	cis	parietal	SCAN
rs183211	LRRC37A	cis	Nerve Tibial	GTEx
rs183211	RP11-259G18.3	cis	Thyroid	GTEx
rs183211	LRRC37A2	cis	Adipose Subcutaneous	GTEx
rs183211	LRRC37A2	cis	Artery Aorta	GTEx
rs183211	MAPK8IP1	cis	Cerebellum	GTEx
rs183211	LOC644246	cis	uninvolved skin	skin_eQTL
rs183211	KIF18B	cis	cerebellum	SCAN
rs183211	LRRC37A	cis	Thyroid	GTEx
rs183211	KANSL1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs183211	RP11-259G18.3	cis	Artery Tibial	GTEx
rs183211	LOC644246	cis	lesional skin	skin_eQTL
rs183211	RP11-259G18.2	cis	Stomach	GTEx
rs183211	LOC644246///LOC649063	cis	uninvolved skin	skin_eQTL
rs183211	KANSL1-AS1	cis	Thyroid	GTEx
rs183211	LRRC37A2	cis	Esophagus Muscularis	GTEx
rs183211	NSF	cis	normal skin	skin_eQTL
rs183211	LRRC37A2	cis	lung	GTEx
rs183211	KRT19	cis	cerebellum	SCAN
rs183211	RP11-259G18.3	cis	lung	GTEx
rs183211	RP11-259G18.3	cis	Skin Sun Exposed Lower leg	GTEx
rs183211	LRRC37A4	Cis_chr	lymphoblastoid	RTeQTL
rs183211	KANSL1-AS1	cis	Artery Aorta	GTEx
rs183211	RP11-259G18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs183211	LRRC37A2	cis	Whole Blood	GTEx
rs183211	RP11-259G18.3	cis	Nerve Tibial	GTEx
rs183211	RP11-259G18.3	cis	Esophagus Muscularis	GTEx
rs183211	KANSL1-AS1	cis	Whole Blood	GTEx
rs183211	SLC25A39	cis	cerebellum	SCAN
rs183211	LRRC37A	cis	Adipose Subcutaneous	GTEx
rs183211	RP11-259G18.3	cis	Muscle Skeletal	GTEx
rs183211	LRRC37A	cis	Stomach	GTEx
rs183211	KANSL1-AS1	cis	lung	GTEx
rs183211	WNT3	cis	Thyroid	GTEx
rs183211	MAPT	cis	Cerebellum	GTEx
rs183211	LRRC37A2	cis	Stomach	GTEx
rs183211	KANSL1-AS1	cis	Muscle Skeletal	GTEx
rs183211	RP11-259G18.3	cis	Esophagus Mucosa	GTEx
rs183211	RP11-259G18.2	cis	Artery Aorta	GTEx
rs183211	RP11-259G18.3	cis	Adipose Subcutaneous	GTEx
rs183211	KANSL1-AS1	cis	Heart Left Ventricle	GTEx
rs183211	RP11-259G18.2	cis	Adipose Subcutaneous	GTEx
rs183211	LRRC37A2	cis	Skin Sun Exposed Lower leg	GTEx
rs183211	ARL17B	cis	lymphoblastoid	seeQTL
rs183211	RP11-259G18.3	cis	Whole Blood	GTEx
rs183211	KANSL1-AS1	cis	Artery Tibial	GTEx
rs183211	RP11-259G18.2	cis	lung	GTEx
rs183211	LOC644246///LOC649063	cis	normal skin	skin_eQTL
rs183211	RP11-259G18.2	cis	Whole Blood	GTEx
rs183211	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs183211	LRRC37A	cis	Esophagus Muscularis	GTEx
rs183211	LRRC37A	cis	Artery Aorta	GTEx
rs183211	LRRC37A	cis	lung	GTEx
rs183211	RP11-259G18.2	cis	Nerve Tibial	GTEx
rs183211	KIAA1267	cis	lesional skin	skin_eQTL
rs183211	RP11-259G18.2	cis	Esophagus Muscularis	GTEx
rs183211	RP11-259G18.3	cis	Stomach	GTEx
rs183211	KANSL1-AS1	cis	Adipose Subcutaneous	GTEx
rs183211	LRRC37A	cis	Muscle Skeletal	GTEx
rs183211	LRRC37A	cis	Esophagus Mucosa	GTEx
rs183211	LRRC37A	cis	Artery Tibial	GTEx
rs183211	MAPK8IP1	trans	lymphoblastoid	RTeQTL
rs183211	NSF	cis	lymphoblastoid	seeQTL
rs183211	LRRC37A17P	cis	Esophagus Mucosa	GTEx
rs183211	KIAA1267	cis	normal skin	skin_eQTL
rs183211	BPTF	Cis_chr	lymphoblastoid	RTeQTL
rs183211	KANSL1-AS1	cis	Esophagus Mucosa	GTEx
rs183211	RP11-259G18.2	cis	Thyroid	GTEx
rs183211	RP11-259G18.2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44779200-44794400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:44780400-44789000	Weak transcription	Fetal Muscle Leg	muscle
3	chr17:44780600-44803600	Weak transcription	K562	blood
4	chr17:44780600-44809800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:44780800-44790200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr17:44780800-44790800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:44780800-44794400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:44780800-44794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr17:44780800-44797400	Weak transcription	NH-A	brain
10	chr17:44780800-44798000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:44780800-44835200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:44781000-44797400	Weak transcription	NHEK	skin
13	chr17:44782000-44798000	Weak transcription	Right Ventricle	heart
14	chr17:44782600-44804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:44782800-44808800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr17:44783000-44788400	Weak transcription	Thymus	Thymus
17	chr17:44783000-44792400	Weak transcription	NHDF-Ad	bronchial
18	chr17:44783000-44794600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:44783000-44795200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:44783200-44789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:44783200-44790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:44783200-44792400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:44783200-44798200	Weak transcription	Left Ventricle	heart
24	chr17:44783400-44789800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr17:44783400-44790200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr17:44783400-44795000	Weak transcription	Fetal Intestine Small	intestine
27	chr17:44783400-44799600	Weak transcription	Ovary	ovary
28	chr17:44783400-44801000	Weak transcription	Brain Substantia Nigra	brain
29	chr17:44783600-44788400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:44783600-44804600	Weak transcription	A549	lung
31	chr17:44783800-44795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:44784000-44797600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:44784400-44793000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:44784400-44798400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr17:44784400-44798400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr17:44784600-44793000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr17:44784600-44810200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:44784800-44798000	Weak transcription	Brain Angular Gyrus	brain
39	chr17:44785200-44790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr17:44785200-44795800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:44785200-44797600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr17:44785400-44789000	Weak transcription	Fetal Stomach	stomach
43	chr17:44785600-44789000	Weak transcription	Fetal Intestine Large	intestine
44	chr17:44785600-44795000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:44785600-44803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:44786200-44788400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:44786200-44789400	Weak transcription	Fetal Lung	lung
48	chr17:44786200-44797200	Weak transcription	Brain Anterior Caudate	brain
49	chr17:44786600-44795000	Weak transcription	Lung	lung
50	chr17:44786600-44798000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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