Variant report

Variant	rs62237796
Chromosome Location	chr22:31976578-31976579
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr22:31975483-31976592	HepG2	liver:	n/a	n/a
2	MAFK	chr22:31976392-31976587	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
2	chr22:31974878..31977685-chr22:31979541..31981630,2	K562	blood:
3	chr22:31974704..31977587-chr22:32057867..32059822,2	MCF-7	breast:
4	22:31976153-31978142..22:32162110-32166713	Hela-S3	cervix:

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000100150	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1018486	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1018487	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018488	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12165609	1.00[ASN][1000 genomes]
rs12168645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130089	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13433626	1.00[ASN][1000 genomes]
rs16989274	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989278	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989279	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16989312	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989334	1.00[ASN][1000 genomes]
rs16989336	1.00[ASN][1000 genomes]
rs16989379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989617	0.80[EUR][1000 genomes]
rs16989620	0.80[EUR][1000 genomes]
rs16989682	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989753	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989760	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2009893	1.00[ASN][1000 genomes]
rs41302569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45594940	1.00[ASN][1000 genomes]
rs55648708	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673702	1.00[ASN][1000 genomes]
rs55684328	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55728055	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734125	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806621	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55844032	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55868468	1.00[ASN][1000 genomes]
rs55894054	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55916646	1.00[ASN][1000 genomes]
rs55931230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56112397	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56150546	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56156742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211407	1.00[ASN][1000 genomes]
rs56227594	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56298010	1.00[ASN][1000 genomes]
rs56318295	1.00[ASN][1000 genomes]
rs56355520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411340	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57103115	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5753700	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57886497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58365021	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58807171	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58825043	0.86[AFR][1000 genomes]
rs60324934	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60359561	1.00[ASN][1000 genomes]
rs60907110	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61151238	1.00[ASN][1000 genomes]
rs61561528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236218	0.80[EUR][1000 genomes]
rs62236223	0.81[EUR][1000 genomes]
rs62236224	0.81[EUR][1000 genomes]
rs62236225	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236226	0.81[EUR][1000 genomes]
rs62236230	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236231	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236232	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62236257	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236258	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237760	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237761	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237764	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62237765	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237766	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237767	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237768	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237772	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237774	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237775	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237790	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237791	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237794	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237800	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237801	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237806	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237808	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237809	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237810	0.82[AFR][1000 genomes]
rs62237812	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237813	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237814	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237819	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237829	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237836	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237837	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237839	1.00[ASN][1000 genomes]
rs62237841	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237844	0.94[AFR][1000 genomes]
rs62237845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237846	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237847	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237848	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237849	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237850	1.00[ASN][1000 genomes]
rs62237852	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237857	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62239168	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239172	1.00[ASN][1000 genomes]
rs62239174	1.00[ASN][1000 genomes]
rs62239180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239183	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62240689	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518753	1.00[ASN][1000 genomes]
rs66666267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67935422	1.00[ASN][1000 genomes]
rs7285091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285893	1.00[ASN][1000 genomes]
rs7286496	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7287417	1.00[ASN][1000 genomes]
rs7287509	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7287516	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7288051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292913	1.00[ASN][1000 genomes]
rs7292915	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7293143	1.00[ASN][1000 genomes]
rs73160635	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73160655	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73160658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162106	1.00[ASN][1000 genomes]
rs73162112	1.00[ASN][1000 genomes]
rs8137314	1.00[ASN][1000 genomes]
rs8139274	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8139316	0.97[AFR][1000 genomes]
rs8139560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142002	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8142355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142821	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9619215	1.00[ASN][1000 genomes]
rs9619217	1.00[ASN][1000 genomes]
rs9621295	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621299	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv979746	chr22:31976201-31982901	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
2	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
3	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
4	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
5	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:31941400-31981400	Weak transcription	NHEK	skin
9	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
12	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
13	chr22:31949600-31977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:31954400-31980000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr22:31957200-31977800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:31957800-31979600	Weak transcription	K562	blood
18	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:31964400-31979800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
21	chr22:31965000-31977600	Strong transcription	Primary T cells from cord blood	blood
22	chr22:31965200-31977200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:31965200-31977400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr22:31965200-31977600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:31965800-31976600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:31966400-31976800	Strong transcription	Thymus	Thymus
27	chr22:31967000-31977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr22:31967000-31977600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr22:31967800-31977200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:31968600-31977200	Strong transcription	Dnd41	blood
33	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
34	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr22:31970400-31977800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr22:31970600-31980000	Weak transcription	Fetal Lung	lung
37	chr22:31970600-31980600	Weak transcription	Brain Angular Gyrus	brain
38	chr22:31970600-31980800	Weak transcription	Colon Smooth Muscle	Colon
39	chr22:31970600-31981400	Weak transcription	Pancreas	Pancrea
40	chr22:31970800-31979400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr22:31970800-31979800	Weak transcription	Osteobl	bone
42	chr22:31971400-31982000	Weak transcription	Gastric	stomach
43	chr22:31971600-31981200	Weak transcription	HMEC	breast
44	chr22:31971800-31979800	Weak transcription	NH-A	brain
45	chr22:31971800-31982000	Weak transcription	Brain Substantia Nigra	brain
46	chr22:31972000-31978600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:31972000-31979600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:31972000-31979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:31972000-31979800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr22:31972000-31980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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