Variant report

Variant	rs62237809
Chromosome Location	chr22:31990500-31990501
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31976205..31978536-chr22:31989845..31992334,2	MCF-7	breast:
2	chr22:31980968..31983542-chr22:31989382..31992325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 160 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018486	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1018487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018488	1.00[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989279	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16989312	1.00[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	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673702	1.00[ASN][1000 genomes]
rs55684328	1.00[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	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853109	0.80[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	0.94[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	1.00[EUR][1000 genomes]
rs56150546	1.00[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	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56298010	1.00[ASN][1000 genomes]
rs56318295	1.00[ASN][1000 genomes]
rs56355520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411340	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57103115	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	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58825043	0.80[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	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61151238	1.00[ASN][1000 genomes]
rs61561528	0.91[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	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237767	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237768	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237770	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237772	0.83[ASN][1000 genomes]
rs62237773	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237774	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237775	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237790	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237791	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237794	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237796	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237797	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237801	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237806	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237810	0.88[AFR][1000 genomes]
rs62237812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237813	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237814	1.00[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	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237829	0.94[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	0.91[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	1.00[AFR][1000 genomes]
rs62237845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237846	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237847	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237848	1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237857	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62239168	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	1.00[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	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7287417	1.00[ASN][1000 genomes]
rs7287509	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7287516	1.00[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	0.94[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73160658	0.94[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	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8139316	0.91[AFR][1000 genomes]
rs8139560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142002	0.94[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	0.82[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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3496816	chr22:31985291-31990564	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3496817	chr22:31985291-31990564	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
4	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
6	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
8	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
10	chr22:31976200-32014800	Weak transcription	A549	lung
11	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
13	chr22:31981800-31995600	Weak transcription	HUVEC	blood vessel
14	chr22:31982000-31998000	Weak transcription	Brain Angular Gyrus	brain
15	chr22:31982400-31998200	Weak transcription	Gastric	stomach
16	chr22:31982600-31997400	Weak transcription	Brain Hippocampus Middle	brain
17	chr22:31982600-31998000	Weak transcription	NHEK	skin
18	chr22:31982600-31998400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:31982600-32006400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr22:31982800-31997600	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:31982800-31998200	Weak transcription	NHLF	lung
22	chr22:31983000-31991400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:31983000-31998600	Weak transcription	Colonic Mucosa	Colon
24	chr22:31983600-31998000	Weak transcription	Spleen	Spleen
25	chr22:31983800-31996400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:31984400-31991400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr22:31984400-31991400	Weak transcription	K562	blood
28	chr22:31984400-31992200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:31984400-31996400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:31984400-31996800	Weak transcription	GM12878-XiMat	blood
31	chr22:31984400-31998000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:31984400-31998000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr22:31984400-31998200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:31984400-31998400	Weak transcription	Primary B cells from cord blood	blood
35	chr22:31984400-31998400	Weak transcription	Adipose Nuclei	Adipose
36	chr22:31984400-31998400	Weak transcription	Fetal Lung	lung
37	chr22:31984400-31999000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr22:31984600-31996200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:31984600-31997600	Weak transcription	Fetal Muscle Leg	muscle
40	chr22:31984600-31997800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr22:31984600-31998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:31984600-31998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:31984600-31998200	Weak transcription	Ovary	ovary
44	chr22:31985200-31998200	Weak transcription	Fetal Brain Female	brain
45	chr22:31985600-31997800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr22:31985600-31998000	Weak transcription	Osteobl	bone
47	chr22:31985600-31998400	Weak transcription	Brain Anterior Caudate	brain
48	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:31985800-31991000	Weak transcription	Thymus	Thymus
50	chr22:31985800-31991200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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