Variant report

Variant	rs62237833
Chromosome Location	chr22:32012141-32012142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32006220..32009486-chr22:32009995..32012615,3	K562	blood:
2	chr22:32000416..32002977-chr22:32011227..32013739,3	K562	blood:
3	22:31803954-31807204..22:32011472-32012966	K562	blood:
4	22:31836635-31847259..22:32011472-32012966	GM12878	blood:
5	chr22:32011211..32013960-chr22:32020685..32023584,2	MCF-7	breast:

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

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1018486	0.83[ASN][1000 genomes]
rs1018487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018488	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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989278	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989279	0.83[ASN][1000 genomes]
rs16989312	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]
rs16989337	0.83[AFR][1000 genomes]
rs16989379	0.86[AFR][1000 genomes];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	0.86[AFR][1000 genomes];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	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	0.95[AFR][1000 genomes];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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853109	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55868468	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55894054	1.00[ASN][1000 genomes]
rs55916646	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55931230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56112397	1.00[EUR][1000 genomes]
rs56150546	1.00[ASN][1000 genomes]
rs56156742	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211407	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56227594	1.00[ASN][1000 genomes]
rs56298010	1.00[ASN][1000 genomes]
rs56318295	1.00[ASN][1000 genomes]
rs56355520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411340	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	0.86[EUR][1000 genomes];1.00[ASN][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	0.83[ASN][1000 genomes]
rs61151238	1.00[ASN][1000 genomes]
rs61561528	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	0.82[AFR][1000 genomes];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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237764	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62237765	0.83[ASN][1000 genomes]
rs62237766	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237767	0.83[ASN][1000 genomes]
rs62237768	0.83[ASN][1000 genomes]
rs62237769	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237770	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237772	0.83[ASN][1000 genomes]
rs62237773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237774	0.83[ASN][1000 genomes]
rs62237775	0.83[ASN][1000 genomes]
rs62237790	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237791	1.00[ASN][1000 genomes]
rs62237793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237794	1.00[ASN][1000 genomes]
rs62237796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237806	1.00[ASN][1000 genomes]
rs62237808	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237813	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237814	1.00[ASN][1000 genomes]
rs62237818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237819	1.00[ASN][1000 genomes]
rs62237829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237836	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237839	1.00[ASN][1000 genomes]
rs62237841	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237846	1.00[ASN][1000 genomes]
rs62237847	1.00[ASN][1000 genomes]
rs62237848	1.00[ASN][1000 genomes]
rs62237849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237850	1.00[ASN][1000 genomes]
rs62237852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237857	1.00[ASN][1000 genomes]
rs62239168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239169	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239172	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62239174	0.86[AFR][1000 genomes];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	0.81[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285893	1.00[ASN][1000 genomes]
rs7286496	1.00[ASN][1000 genomes]
rs7287417	1.00[ASN][1000 genomes]
rs7287509	1.00[ASN][1000 genomes]
rs7287516	1.00[ASN][1000 genomes]
rs7288051	1.00[AFR][1000 genomes];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[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73160658	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162106	1.00[ASN][1000 genomes]
rs73162112	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8137314	1.00[ASN][1000 genomes]
rs8139274	1.00[ASN][1000 genomes]
rs8139560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142002	1.00[ASN][1000 genomes]
rs8142355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142821	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	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	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active 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	20 gene(s)	inside rSNPs	diseases
4	esv1845516	chr22:32010436-32024552	Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 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	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
3	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:31976200-32014800	Weak transcription	A549	lung
5	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
7	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:31993200-32013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:31996600-32012200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:31998400-32015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:31998600-32022000	Weak transcription	Fetal Kidney	kidney
18	chr22:31998800-32012200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:31999000-32013800	Weak transcription	HMEC	breast
20	chr22:31999000-32014600	Weak transcription	NHDF-Ad	bronchial
21	chr22:31999400-32012800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:31999400-32014800	Weak transcription	NH-A	brain
23	chr22:31999600-32012200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:31999800-32012200	Weak transcription	Brain Substantia Nigra	brain
25	chr22:32000200-32014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr22:32001600-32012400	Weak transcription	NHEK	skin
27	chr22:32002600-32012400	Weak transcription	Stomach Mucosa	stomach
28	chr22:32003200-32013000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr22:32003600-32022000	Strong transcription	Dnd41	blood
30	chr22:32004400-32012400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:32004600-32012400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr22:32004600-32013000	Weak transcription	Brain Angular Gyrus	brain
33	chr22:32005400-32013800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:32006000-32013800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:32006800-32015000	Weak transcription	Aorta	Aorta
36	chr22:32007200-32014000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr22:32007400-32012600	Weak transcription	Liver	Liver
38	chr22:32007400-32012800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:32007400-32014800	Weak transcription	Fetal Lung	lung
40	chr22:32007600-32012200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:32007600-32012200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:32007600-32012600	Weak transcription	Colonic Mucosa	Colon
43	chr22:32007600-32013000	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:32007800-32012200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:32007800-32012400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr22:32008000-32012200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:32008000-32012200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr22:32008000-32012800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:32008000-32012800	Weak transcription	NHLF	lung
50	chr22:32008000-32013000	Weak transcription	H9 Cell Line	embryonic stem cell

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