Variant report

Variant	rs62237801
Chromosome Location	chr22:31982615-31982616
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31980240..31982872-chr22:32023554..32027638,4	MCF-7	breast:
2	chr22:31981120..31983681-chr22:31997559..32000083,2	MCF-7	breast:
3	chr22:31980900..31983627-chr22:32021612..32023402,2	K562	blood:
4	22:31829733-31836635..22:31978142-31983723	GM12878	blood:
5	22:31936958-31958600..22:31978142-31983723	K562	blood:
6	chr22:31982333..31984122-chr22:32028532..32031400,2	MCF-7	breast:
7	chr22:31980968..31983542-chr22:31989382..31992325,2	MCF-7	breast:
8	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
9	chr22:31982271..31984848-chr22:32044660..32046890,2	MCF-7	breast:
10	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
11	chr22:31981433..31984029-chr22:31998906..32000413,2	MCF-7	breast:
12	chr22:31955553..31958257-chr22:31980841..31983797,2	MCF-7	breast:
13	chr22:31883857..31886637-chr22:31981082..31982696,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1018486	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1018487	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018488	0.88[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	0.88[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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673702	1.00[ASN][1000 genomes]
rs55684328	0.88[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	0.88[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	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56298010	1.00[ASN][1000 genomes]
rs56318295	1.00[ASN][1000 genomes]
rs56355520	0.88[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]
rs62237806	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237808	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237809	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237812	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237813	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237814	0.88[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	1.00[ASN][1000 genomes]
rs62237829	0.82[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	0.80[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	0.88[AFR][1000 genomes]
rs62237845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237846	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237847	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237848	0.88[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	0.85[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	0.88[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	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7287516	0.88[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	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8139316	0.91[AFR][1000 genomes]
rs8139560	0.88[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	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
2	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
3	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
4	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
2	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
6	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
9	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
11	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
13	chr22:31974600-31984200	Weak transcription	Right Ventricle	heart
14	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
16	chr22:31976200-32014800	Weak transcription	A549	lung
17	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
19	chr22:31977000-31985400	Weak transcription	Stomach Mucosa	stomach
20	chr22:31977800-31983000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr22:31978200-31987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:31978400-31985800	Strong transcription	Thymus	Thymus
23	chr22:31978600-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:31979600-31982800	Enhancers	NHLF	lung
25	chr22:31979600-31983000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr22:31979600-31983000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr22:31979600-31984400	Strong transcription	Primary B cells from cord blood	blood
28	chr22:31979600-31984400	Strong transcription	GM12878-XiMat	blood
29	chr22:31979600-31984600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:31979600-31985800	Strong transcription	Dnd41	blood
31	chr22:31979600-31986200	Strong transcription	Primary T cells from cord blood	blood
32	chr22:31979600-31986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:31979600-31986400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr22:31979800-31982800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:31979800-31983000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:31979800-31983800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr22:31979800-31984400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr22:31979800-31984600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr22:31979800-31984600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:31979800-31984600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:31979800-31984600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:31979800-31984800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:31979800-31985800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:31979800-31985800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr22:31979800-31986200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:31979800-31986200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr22:31980000-31982800	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr22:31980000-31982800	Enhancers	HSMMtube	muscle

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