Variant report

Variant	rs538628
Chromosome Location	chr17:44787313-44787314
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 85 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1378358	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs142167	0.89[CEU][hapmap]
rs169201	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183211	0.89[CEU][hapmap]
rs199436	0.89[CEU][hapmap]
rs199438	0.89[CEU][hapmap]
rs199439	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199442	0.89[CEU][hapmap]
rs199443	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199444	0.89[CEU][hapmap]
rs199445	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199447	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199448	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199449	0.89[CEU][hapmap]
rs199451	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199452	0.89[CEU][hapmap]
rs199453	0.89[CEU][hapmap]
rs199454	0.89[CEU][hapmap]
rs199455	0.90[CEU][hapmap]
rs199456	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199457	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199498	0.94[CEU][hapmap]
rs199499	1.00[ASN][1000 genomes]
rs199501	0.89[CEU][hapmap]
rs199503	1.00[ASN][1000 genomes]
rs199504	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199505	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199506	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199507	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199509	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199510	1.00[ASN][1000 genomes]
rs199512	1.00[ASN][1000 genomes]
rs199513	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199514	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199515	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199516	1.00[CEU][hapmap]
rs199520	0.88[CEU][hapmap]
rs199524	0.90[CEU][hapmap]
rs199525	1.00[ASN][1000 genomes]
rs199528	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs199529	1.00[ASN][1000 genomes]
rs199533	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199534	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199535	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199536	0.89[CEU][hapmap]
rs415430	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs430685	1.00[ASN][1000 genomes]
rs70600	1.00[ASN][1000 genomes]
rs70602	1.00[CEU][hapmap]
rs916888	1.00[ASN][1000 genomes]
rs9895805	1.00[YRI][hapmap]
rs9896243	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911982	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

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	nsv995069	chr17:44223908-44787924	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
42	nsv1062961	chr17:44223908-44788182	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription 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	42 gene(s)	inside rSNPs	diseases
43	nsv1066926	chr17:44223908-44788182	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
44	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
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:85)

SNP	Gene	Cis/trans	Tissue	Source
rs538628	RP11-259G18.3	cis	Esophagus Muscularis	GTEx
rs538628	LRRC37A2	cis	Heart Left Ventricle	GTEx
rs538628	BPTF	Cis_chr	lymphoblastoid	RTeQTL
rs538628	RP11-669E14.6	cis	Thyroid	GTEx
rs538628	LRRC37A	cis	Thyroid	GTEx
rs538628	MAPT	cis	Cerebellum	GTEx
rs538628	RP11-259G18.2	cis	lung	GTEx
rs538628	RP11-259G18.3	cis	Nerve Tibial	GTEx
rs538628	LRRC37A2	cis	Esophagus Mucosa	GTEx
rs538628	RP11-259G18.2	cis	Stomach	GTEx
rs538628	RP11-259G18.3	cis	Stomach	GTEx
rs538628	KANSL1-AS1	cis	Muscle Skeletal	GTEx
rs538628	LOC644246///LOC649063	cis	uninvolved skin	skin_eQTL
rs538628	RP11-259G18.3	cis	Skin Sun Exposed Lower leg	GTEx
rs538628	KANSL1-AS1	cis	Whole Blood	GTEx
rs538628	KANSL1-AS1	cis	Stomach	GTEx
rs538628	LRRC37A2	cis	Adipose Subcutaneous	GTEx
rs538628	RP11-259G18.2	cis	Esophagus Mucosa	GTEx
rs538628	RP11-259G18.2	cis	Whole Blood	GTEx
rs538628	LRRC37A2	cis	lung	GTEx
rs538628	RP11-259G18.3	cis	lung	GTEx
rs538628	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs538628	KANSL1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs538628	KANSL1-AS1	cis	Heart Left Ventricle	GTEx
rs538628	KANSL1-AS1	cis	Thyroid	GTEx
rs538628	LRRC37A2	cis	Esophagus Muscularis	GTEx
rs538628	LRRC37A	cis	Skin Sun Exposed Lower leg	GTEx
rs538628	WNT3	cis	Thyroid	GTEx
rs538628	LRRC37A	cis	Adipose Subcutaneous	GTEx
rs538628	LRRC37A2	cis	Stomach	GTEx
rs538628	NSF	cis	normal skin	skin_eQTL
rs538628	LOC474170	cis	uninvolved skin	skin_eQTL
rs538628	LRRC37A4	Cis_chr	lymphoblastoid	RTeQTL
rs538628	LRRC37A2	cis	Skin Sun Exposed Lower leg	GTEx
rs538628	KANSL1-AS1	cis	lung	GTEx
rs538628	KIAA1267	cis	lesional skin	skin_eQTL
rs538628	KIAA1267	cis	normal skin	skin_eQTL
rs538628	KANSL1-AS1	cis	Artery Aorta	GTEx
rs538628	RP11-259G18.3	cis	Thyroid	GTEx
rs538628	LOC644246///LOC649063	cis	lesional skin	skin_eQTL
rs538628	MAPK8IP1	cis	Cerebellum	GTEx
rs538628	LOC644246	cis	uninvolved skin	skin_eQTL
rs538628	RP11-259G18.2	cis	Artery Aorta	GTEx
rs538628	RP11-259G18.3	cis	Artery Aorta	GTEx
rs538628	RP11-259G18.2	cis	Heart Left Ventricle	GTEx
rs538628	LRRC37A	cis	Stomach	GTEx
rs538628	RP11-259G18.3	cis	Heart Left Ventricle	GTEx
rs538628	LRRC37A	cis	Esophagus Muscularis	GTEx
rs538628	MAPT	cis	Frontal Cortex	GTEx
rs538628	RP11-259G18.3	cis	Muscle Skeletal	GTEx
rs538628	LRRC37A	cis	Frontal Cortex	GTEx
rs538628	RP11-259G18.3	cis	Adipose Subcutaneous	GTEx
rs538628	RP11-259G18.2	cis	Thyroid	GTEx
rs538628	LOC644246	cis	lesional skin	skin_eQTL
rs538628	LRRC37A2	cis	Artery Aorta	GTEx
rs538628	RP11-259G18.2	cis	Nerve Tibial	GTEx
rs538628	KANSL1-AS1	cis	Esophagus Muscularis	GTEx
rs538628	RP11-259G18.2	cis	Esophagus Muscularis	GTEx
rs538628	LRRC37A	cis	Artery Aorta	GTEx
rs538628	RP11-259G18.2	cis	Adipose Subcutaneous	GTEx
rs538628	KANSL1-AS1	cis	Artery Tibial	GTEx
rs538628	LRRC37A	cis	Nerve Tibial	GTEx
rs538628	LRRC37A	cis	Muscle Skeletal	GTEx
rs538628	RP11-259G18.3	cis	Artery Tibial	GTEx
rs538628	KANSL1-AS1	cis	Esophagus Mucosa	GTEx
rs538628	RP11-259G18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs538628	RP11-259G18.3	cis	Whole Blood	GTEx
rs538628	LOC644246///LOC649063	cis	normal skin	skin_eQTL
rs538628	LRRC37A2	cis	Muscle Skeletal	GTEx
rs538628	LRRC37A2	cis	Whole Blood	GTEx
rs538628	RP11-259G18.2	cis	Artery Tibial	GTEx
rs538628	LRRC37A2	cis	Nerve Tibial	GTEx
rs538628	RP11-259G18.3	cis	Esophagus Mucosa	GTEx
rs538628	LRRC37A	cis	Artery Tibial	GTEx
rs538628	LRRC37A2	cis	Artery Tibial	GTEx
rs538628	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs538628	MAPK8IP1	trans	lymphoblastoid	RTeQTL
rs538628	KANSL1-AS1	cis	Nerve Tibial	GTEx
rs538628	LRRC37A	cis	Esophagus Mucosa	GTEx
rs538628	LRRC37A17P	cis	Esophagus Mucosa	GTEx
rs538628	KIAA1267	cis	uninvolved skin	skin_eQTL
rs538628	LRRC37A2	cis	Thyroid	GTEx
rs538628	LRRC37A	cis	lung	GTEx
rs538628	RP11-259G18.2	cis	Muscle Skeletal	GTEx
rs538628	KANSL1-AS1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44770200-44787800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:44779200-44794400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr17:44780400-44789000	Weak transcription	Fetal Muscle Leg	muscle
4	chr17:44780600-44803600	Weak transcription	K562	blood
5	chr17:44780600-44809800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr17:44780800-44787600	Weak transcription	Primary B cells from cord blood	blood
7	chr17:44780800-44790200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr17:44780800-44790800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:44780800-44794400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:44780800-44794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr17:44780800-44797400	Weak transcription	NH-A	brain
12	chr17:44780800-44798000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:44780800-44835200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr17:44781000-44797400	Weak transcription	NHEK	skin
15	chr17:44781600-44787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:44782000-44798000	Weak transcription	Right Ventricle	heart
17	chr17:44782600-44804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:44782800-44808800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:44783000-44787400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:44783000-44788000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:44783000-44788000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:44783000-44788000	Weak transcription	Placenta	Placenta
23	chr17:44783000-44788400	Weak transcription	Thymus	Thymus
24	chr17:44783000-44792400	Weak transcription	NHDF-Ad	bronchial
25	chr17:44783000-44794600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:44783000-44795200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:44783200-44787400	Weak transcription	GM12878-XiMat	blood
28	chr17:44783200-44787800	Weak transcription	HSMM	muscle
29	chr17:44783200-44789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:44783200-44790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:44783200-44792400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:44783200-44798200	Weak transcription	Left Ventricle	heart
33	chr17:44783400-44787600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:44783400-44789800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:44783400-44790200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:44783400-44795000	Weak transcription	Fetal Intestine Small	intestine
37	chr17:44783400-44799600	Weak transcription	Ovary	ovary
38	chr17:44783400-44801000	Weak transcription	Brain Substantia Nigra	brain
39	chr17:44783600-44788400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:44783600-44804600	Weak transcription	A549	lung
41	chr17:44783800-44795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:44784000-44797600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:44784400-44793000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:44784400-44798400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr17:44784400-44798400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr17:44784600-44793000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr17:44784600-44810200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:44784800-44798000	Weak transcription	Brain Angular Gyrus	brain
49	chr17:44785000-44787800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:44785000-44788000	Weak transcription	Osteobl	bone

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