Variant report

Variant	rs199457
Chromosome Location	chr17:44795469-44795470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44793480..44795717-chr17:44798517..44800537,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213326	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 80 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1378358	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs142167	0.89[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs169201	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17852784	1.00[CHD][hapmap]
rs183211	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs199436	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs199438	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs199439	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199442	0.89[CEU][hapmap]
rs199443	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199444	0.89[CEU][hapmap]
rs199445	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199448	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199449	0.89[CEU][hapmap]
rs199451	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199452	0.89[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs199453	0.89[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs199454	0.89[CEU][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes]
rs199455	0.89[CEU][hapmap]
rs199456	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199498	0.88[CEU][hapmap]
rs199499	1.00[ASN][1000 genomes]
rs199501	0.83[CEU][hapmap]
rs199503	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199504	0.91[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199505	0.94[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199506	0.94[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199507	0.94[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199509	0.94[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199510	1.00[ASN][1000 genomes]
rs199512	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199513	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199514	0.94[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199515	0.94[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199516	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs199520	0.82[CEU][hapmap]
rs199524	0.83[CEU][hapmap]
rs199525	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199528	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199529	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199533	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199534	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199535	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199536	0.89[CEU][hapmap]
rs415430	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430685	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538628	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs70600	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs70602	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs916888	1.00[ASN][1000 genomes]
rs9896243	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	nsv529542	chr17:44305975-44820329	Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
29	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
30	esv1822313	chr17:44385954-44810972	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
31	esv1819056	chr17:44391822-44873614	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
32	esv1844763	chr17:44391822-44913631	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
33	nsv428343	chr17:44391822-44913631	Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
34	nsv908393	chr17:44419932-44800046	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
35	esv1806073	chr17:44443111-44873614	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
36	nsv529596	chr17:44485771-44820329	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
37	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription 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	30 gene(s)	inside rSNPs	diseases
38	esv1850605	chr17:44537030-44913631	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
39	esv1792649	chr17:44627136-44849634	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
40	esv1810069	chr17:44627648-44814884	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
41	nsv575379	chr17:44628454-44800046	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
42	esv1820936	chr17:44629166-44848916	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
43	esv1807564	chr17:44648058-44800046	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
44	esv1812673	chr17:44648058-44849188	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS 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	15 gene(s)	inside rSNPs	diseases
45	esv1818423	chr17:44648058-44849634	Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
46	esv1805955	chr17:44654416-44849188	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
47	esv1818944	chr17:44662268-44859144	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
48	nsv471402	chr17:44668038-44834833	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
49	esv1812440	chr17:44676478-44802774	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
50	esv1812148	chr17:44680207-44816132	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:80)

SNP	Gene	Cis/trans	Tissue	Source
rs199457	LRRC37A	cis	lung	GTEx
rs199457	SP6	cis	cerebellum	SCAN
rs199457	MAPK8IP1	trans	lymphoblastoid	RTeQTL
rs199457	SLC25A39	cis	cerebellum	SCAN
rs199457	MAPT	cis	Esophagus Mucosa	GTEx
rs199457	KANSL1-AS1	cis	Whole Blood	GTEx
rs199457	RP11-259G18.2	cis	Esophagus Muscularis	GTEx
rs199457	KANSL1-AS1	cis	Muscle Skeletal	GTEx
rs199457	RP11-259G18.3	cis	Esophagus Mucosa	GTEx
rs199457	LRRC37A4	Cis_chr	lymphoblastoid	RTeQTL
rs199457	RP11-259G18.3	cis	Heart Left Ventricle	GTEx
rs199457	LRRC37A2	cis	Heart Left Ventricle	GTEx
rs199457	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs199457	LRRC37A	cis	Muscle Skeletal	GTEx
rs199457	LRRC37A2	cis	Artery Aorta	GTEx
rs199457	KANSL1-AS1	cis	Thyroid	GTEx
rs199457	LRRC37A2	cis	Esophagus Mucosa	GTEx
rs199457	KANSL1-AS1	cis	Esophagus Mucosa	GTEx
rs199457	RP11-259G18.2	cis	Adipose Subcutaneous	GTEx
rs199457	LRRC37A2	cis	Thyroid	GTEx
rs199457	LRRC37A2	cis	Adipose Subcutaneous	GTEx
rs199457	RP11-259G18.2	cis	Stomach	GTEx
rs199457	KANSL1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs199457	RP11-259G18.2	cis	Whole Blood	GTEx
rs199457	LRRC37A	cis	Artery Aorta	GTEx
rs199457	RP11-259G18.3	cis	Artery Tibial	GTEx
rs199457	LRRC37A	cis	Stomach	GTEx
rs199457	RP11-259G18.2	cis	Muscle Skeletal	GTEx
rs199457	LRRC37A	cis	Thyroid	GTEx
rs199457	KANSL1-AS1	cis	lung	GTEx
rs199457	LRRC37A2	cis	lung	GTEx
rs199457	LRRC37A17P	cis	Esophagus Mucosa	GTEx
rs199457	LRRC37A2	cis	Muscle Skeletal	GTEx
rs199457	KANSL1-AS1	cis	Esophagus Muscularis	GTEx
rs199457	RP11-259G18.2	cis	lung	GTEx
rs199457	LRRC37A	cis	Esophagus Mucosa	GTEx
rs199457	RP11-259G18.3	cis	Esophagus Muscularis	GTEx
rs199457	RP11-259G18.2	cis	Heart Left Ventricle	GTEx
rs199457	RP11-259G18.3	cis	Artery Aorta	GTEx
rs199457	GJC1	cis	parietal	SCAN
rs199457	LRRC37A	cis	Whole Blood	GTEx
rs199457	RP11-259G18.3	cis	Adipose Subcutaneous	GTEx
rs199457	LRRC37A2	cis	Whole Blood	GTEx
rs199457	HAP1	cis	cerebellum	SCAN
rs199457	KANSL1-AS1	cis	Nerve Tibial	GTEx
rs199457	KANSL1-AS1	cis	Stomach	GTEx
rs199457	RP11-259G18.2	cis	Artery Aorta	GTEx
rs199457	RP11-259G18.3	cis	Whole Blood	GTEx
rs199457	ARL17B	cis	lymphoblastoid	seeQTL
rs199457	RP11-259G18.3	cis	Thyroid	GTEx
rs199457	LRRC37A2	cis	Stomach	GTEx
rs199457	RP11-259G18.3	cis	Skin Sun Exposed Lower leg	GTEx
rs199457	RP11-259G18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs199457	LRRC37A	cis	Nerve Tibial	GTEx
rs199457	LRRC37A2	cis	Artery Tibial	GTEx
rs199457	KANSL1-AS1	cis	Artery Tibial	GTEx
rs199457	KRT26	cis	cerebellum	SCAN
rs199457	LRRC37A	cis	Esophagus Muscularis	GTEx
rs199457	KANSL1-AS1	cis	Adipose Subcutaneous	GTEx
rs199457	LRRC37A	cis	Adipose Subcutaneous	GTEx
rs199457	LRRC37A2	cis	Nerve Tibial	GTEx
rs199457	RP11-259G18.3	cis	Stomach	GTEx
rs199457	FMNL1	cis	cerebellum	SCAN
rs199457	RP11-259G18.3	cis	lung	GTEx
rs199457	BPTF	Cis_chr	lymphoblastoid	RTeQTL
rs199457	RP11-259G18.3	cis	Muscle Skeletal	GTEx
rs199457	LRRC37A2	cis	Skin Sun Exposed Lower leg	GTEx
rs199457	RP11-259G18.2	cis	Esophagus Mucosa	GTEx
rs199457	RP11-259G18.2	cis	Thyroid	GTEx
rs199457	WNT3	cis	Thyroid	GTEx
rs199457	LRRC37A	cis	Artery Tibial	GTEx
rs199457	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs199457	LRRC37A2	cis	Esophagus Muscularis	GTEx
rs199457	RP11-259G18.2	cis	Nerve Tibial	GTEx
rs199457	RP11-669E14.6	cis	Thyroid	GTEx
rs199457	LRRC37A	cis	Skin Sun Exposed Lower leg	GTEx
rs199457	KANSL1-AS1	cis	Heart Left Ventricle	GTEx
rs199457	RP11-259G18.3	cis	Nerve Tibial	GTEx
rs199457	KANSL1-AS1	cis	Artery Aorta	GTEx
rs199457	RP11-259G18.2	cis	Artery Tibial	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44780600-44803600	Weak transcription	K562	blood
2	chr17:44780600-44809800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr17:44780800-44797400	Weak transcription	NH-A	brain
4	chr17:44780800-44798000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:44780800-44835200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:44781000-44797400	Weak transcription	NHEK	skin
7	chr17:44782000-44798000	Weak transcription	Right Ventricle	heart
8	chr17:44782600-44804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr17:44782800-44808800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:44783200-44798200	Weak transcription	Left Ventricle	heart
11	chr17:44783400-44799600	Weak transcription	Ovary	ovary
12	chr17:44783400-44801000	Weak transcription	Brain Substantia Nigra	brain
13	chr17:44783600-44804600	Weak transcription	A549	lung
14	chr17:44784000-44797600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:44784400-44798400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:44784400-44798400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:44784600-44810200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:44784800-44798000	Weak transcription	Brain Angular Gyrus	brain
19	chr17:44785200-44795800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:44785200-44797600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr17:44785600-44803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:44786200-44797200	Weak transcription	Brain Anterior Caudate	brain
23	chr17:44786600-44798000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:44786600-44827800	Weak transcription	Brain Hippocampus Middle	brain
25	chr17:44786800-44811200	Weak transcription	Hela-S3	cervix
26	chr17:44787000-44798200	Weak transcription	Psoas Muscle	Psoas
27	chr17:44787000-44808600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:44787000-44810200	Weak transcription	Aorta	Aorta
29	chr17:44787200-44796200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr17:44787200-44800000	Weak transcription	Fetal Kidney	kidney
31	chr17:44787400-44795600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:44787600-44810800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:44787800-44796200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr17:44787800-44808600	Weak transcription	Fetal Brain Female	brain
35	chr17:44788800-44803600	Weak transcription	HMEC	breast
36	chr17:44788800-44820000	Weak transcription	Small Intestine	intestine
37	chr17:44789200-44804800	Weak transcription	HSMMtube	muscle
38	chr17:44789200-44833200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:44789600-44803400	Weak transcription	Osteobl	bone
40	chr17:44789800-44797400	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:44790800-44803200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr17:44790800-44808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:44791200-44795800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:44791200-44796200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr17:44791200-44799800	Weak transcription	GM12878-XiMat	blood
46	chr17:44791400-44798400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:44791400-44828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr17:44791600-44797400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr17:44791600-44804200	Weak transcription	HSMM	muscle
50	chr17:44792000-44797400	Weak transcription	Fetal Lung	lung

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