Variant report

Variant	rs62237836
Chromosome Location	chr22:32020314-32020315
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	22:32012966-32043914..22:32513817-32522138	K562	blood:
4	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
5	22:32012966-32043914..22:32665993-32670527	K562	blood:
6	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
7	22:32012966-32043914..22:32529813-32538538	K562	blood:
8	22:32012966-32043914..22:32846948-32860159	K562	blood:
9	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
10	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214093	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000232707	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1018486	0.83[ASN][1000 genomes]
rs1018487	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018488	1.00[ASN][1000 genomes]
rs12165609	1.00[ASN][1000 genomes]
rs12168645	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130089	0.91[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];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989278	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989279	0.83[ASN][1000 genomes]
rs16989312	1.00[AMR][1000 genomes];0.92[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989385	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989427	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989682	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16989753	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989760	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2009893	1.00[ASN][1000 genomes]
rs41302569	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45594940	1.00[ASN][1000 genomes]
rs55648708	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673702	1.00[ASN][1000 genomes]
rs55684328	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55728055	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734125	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806621	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55844032	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853109	1.00[AMR][1000 genomes];0.84[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56112397	0.92[EUR][1000 genomes]
rs56150546	1.00[ASN][1000 genomes]
rs56156742	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411340	1.00[ASN][1000 genomes]
rs57103115	1.00[ASN][1000 genomes]
rs5753700	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57886497	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58365021	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58807171	1.00[ASN][1000 genomes]
rs60324934	1.00[AMR][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];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236225	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62236230	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62236231	1.00[AMR][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];0.83[ASN][1000 genomes]
rs62236258	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237760	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237761	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237764	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62237765	0.83[ASN][1000 genomes]
rs62237766	1.00[AMR][1000 genomes];0.84[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];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237770	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237772	0.83[ASN][1000 genomes]
rs62237773	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237774	0.83[ASN][1000 genomes]
rs62237775	0.83[ASN][1000 genomes]
rs62237790	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237791	1.00[ASN][1000 genomes]
rs62237793	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237794	1.00[ASN][1000 genomes]
rs62237796	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237797	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237798	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237800	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237801	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237806	1.00[ASN][1000 genomes]
rs62237808	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237809	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237812	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237813	0.82[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237819	1.00[ASN][1000 genomes]
rs62237829	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237834	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237839	1.00[ASN][1000 genomes]
rs62237841	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237850	1.00[ASN][1000 genomes]
rs62237852	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237857	1.00[ASN][1000 genomes]
rs62239168	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239169	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239181	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239182	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239183	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240685	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62240689	1.00[ASN][1000 genomes]
rs6518753	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66666267	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67935422	1.00[ASN][1000 genomes]
rs7285091	1.00[AMR][1000 genomes];0.92[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290517	1.00[AMR][1000 genomes];0.92[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];0.83[ASN][1000 genomes]
rs73160655	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73160658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142002	1.00[ASN][1000 genomes]
rs8142355	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142821	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9619215	1.00[ASN][1000 genomes]
rs9619217	1.00[ASN][1000 genomes]
rs9621295	0.92[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:31998600-32022000	Weak transcription	Fetal Kidney	kidney
3	chr22:32003600-32022000	Strong transcription	Dnd41	blood
4	chr22:32008000-32021200	Weak transcription	Fetal Heart	heart
5	chr22:32008000-32022600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:32009600-32021800	Strong transcription	Primary T cells from cord blood	blood
7	chr22:32010200-32025600	Genic enhancers	Placenta	Placenta
8	chr22:32012200-32020600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:32012200-32022600	Strong transcription	Thymus	Thymus
10	chr22:32012600-32020400	Strong transcription	Liver	Liver
11	chr22:32012600-32020800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:32012600-32022000	Weak transcription	Psoas Muscle	Psoas
13	chr22:32012600-32024400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:32012800-32020800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:32012800-32020800	Strong transcription	Lung	lung
16	chr22:32012800-32021400	Weak transcription	Right Atrium	heart
17	chr22:32012800-32021400	Strong transcription	NHLF	lung
18	chr22:32013000-32022200	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr22:32013200-32020600	Strong transcription	Gastric	stomach
20	chr22:32013200-32020800	Weak transcription	Stomach Mucosa	stomach
21	chr22:32013200-32022000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr22:32013200-32024000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:32013600-32025200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr22:32014000-32025600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr22:32015000-32022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr22:32015200-32021400	Strong transcription	NHEK	skin
27	chr22:32015200-32021800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr22:32015200-32022000	Weak transcription	Fetal Lung	lung
29	chr22:32015400-32022400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr22:32015400-32025200	Weak transcription	Hela-S3	cervix
31	chr22:32016000-32023600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:32016400-32025400	Weak transcription	HSMM	muscle
33	chr22:32016600-32021600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:32016600-32022400	Weak transcription	A549	lung
35	chr22:32016600-32025600	Weak transcription	Small Intestine	intestine
36	chr22:32016800-32025600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr22:32017000-32025400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:32017200-32020400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:32017400-32020400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr22:32017400-32021200	Weak transcription	NH-A	brain
41	chr22:32017400-32021600	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr22:32017600-32020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:32017600-32021400	Weak transcription	Ovary	ovary
44	chr22:32017600-32022000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr22:32017600-32025600	Genic enhancers	Spleen	Spleen
46	chr22:32017800-32020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:32017800-32021400	Weak transcription	Left Ventricle	heart
48	chr22:32017800-32021600	Weak transcription	Colonic Mucosa	Colon
49	chr22:32017800-32022600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:32017800-32022800	Weak transcription	Primary B cells from cord blood	blood

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