Variant report

Variant	rs62236223
Chromosome Location	chr22:31863554-31863555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31861680-31864703..22:33339333-33353583	K562	blood:
2	22:31861680-31864703..22:31978142-31983723	GM12878	blood:
3	22:31861680-31864703..22:31961151-31976153	K562	blood:
4	22:31861680-31864703..22:32012966-32043914	GM12878	blood:
5	22:31803954-31807204..22:31861680-31864703	GM12878	blood:
6	22:31836635-31847259..22:31861680-31864703	K562	blood:
7	chr22:31862991..31864545-chr22:31885430..31887272,2	MCF-7	breast:
8	22:31861680-31864703..22:32750950-32761732	K562	blood:

Variant related genes	Relation type
ENSG00000205853	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1018487	0.81[EUR][1000 genomes]
rs12160763	0.92[EUR][1000 genomes]
rs12168645	0.81[EUR][1000 genomes]
rs130089	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989274	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989278	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989279	0.86[ASN][1000 genomes]
rs16989312	0.81[EUR][1000 genomes]
rs16989379	0.81[EUR][1000 genomes]
rs16989385	0.81[EUR][1000 genomes]
rs16989519	0.85[EUR][1000 genomes]
rs16989617	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989620	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989623	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989635	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989638	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989682	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989753	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989760	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2180142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41302569	0.81[EUR][1000 genomes]
rs55648708	0.81[EUR][1000 genomes]
rs55684328	0.81[EUR][1000 genomes]
rs55806621	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55844032	0.81[EUR][1000 genomes]
rs55853109	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55931230	0.81[EUR][1000 genomes]
rs55997441	0.85[EUR][1000 genomes]
rs56112397	0.81[EUR][1000 genomes]
rs56156742	0.81[EUR][1000 genomes]
rs56314242	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56355520	0.81[EUR][1000 genomes]
rs56385611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753700	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57886497	0.81[EUR][1000 genomes]
rs60324934	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60907110	0.86[ASN][1000 genomes]
rs62236168	0.85[EUR][1000 genomes]
rs62236170	0.85[EUR][1000 genomes]
rs62236187	0.85[EUR][1000 genomes]
rs62236215	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236218	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236225	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236226	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62236230	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236231	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236232	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236257	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236258	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237437	0.85[EUR][1000 genomes]
rs62237446	0.85[EUR][1000 genomes]
rs62237760	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237761	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237764	0.88[EUR][1000 genomes]
rs62237765	0.86[ASN][1000 genomes]
rs62237766	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237767	0.86[ASN][1000 genomes]
rs62237768	0.86[ASN][1000 genomes]
rs62237769	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237770	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237772	0.86[ASN][1000 genomes]
rs62237773	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237774	0.86[ASN][1000 genomes]
rs62237775	0.86[ASN][1000 genomes]
rs62237790	0.81[EUR][1000 genomes]
rs62237793	0.81[EUR][1000 genomes]
rs62237796	0.81[EUR][1000 genomes]
rs62237797	0.81[EUR][1000 genomes]
rs62237798	0.81[EUR][1000 genomes]
rs62237800	0.81[EUR][1000 genomes]
rs62237801	0.81[EUR][1000 genomes]
rs62237809	0.81[EUR][1000 genomes]
rs62237812	0.81[EUR][1000 genomes]
rs62237818	0.81[EUR][1000 genomes]
rs62237829	0.81[EUR][1000 genomes]
rs62237832	0.81[EUR][1000 genomes]
rs62237833	0.81[EUR][1000 genomes]
rs62237834	0.81[EUR][1000 genomes]
rs62237838	0.81[EUR][1000 genomes]
rs62237843	0.81[EUR][1000 genomes]
rs62237845	0.81[EUR][1000 genomes]
rs62237852	0.81[EUR][1000 genomes]
rs62239168	0.81[EUR][1000 genomes]
rs62239169	0.81[EUR][1000 genomes]
rs62239180	0.81[EUR][1000 genomes]
rs62239181	0.81[EUR][1000 genomes]
rs62239182	0.81[EUR][1000 genomes]
rs66666267	0.81[EUR][1000 genomes]
rs7285091	0.81[EUR][1000 genomes]
rs7288051	0.81[EUR][1000 genomes]
rs7290517	0.81[EUR][1000 genomes]
rs73158601	0.92[EUR][1000 genomes]
rs73160611	0.85[EUR][1000 genomes]
rs73160614	0.85[EUR][1000 genomes]
rs73160635	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73160655	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73160700	0.81[EUR][1000 genomes]
rs8139560	0.81[EUR][1000 genomes]
rs8142355	0.81[EUR][1000 genomes]
rs8142821	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs878654	0.85[EUR][1000 genomes]
rs9621295	0.81[EUR][1000 genomes]
rs9680589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv1791934	chr22:31846234-31874194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	nsv9897	chr22:31860213-31864142	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Age-related hearing impairment	24939585	GWAS catalog

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31815000-31868200	Strong transcription	Dnd41	blood
4	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
8	chr22:31846000-31865800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr22:31846400-31872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:31847800-31868200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr22:31848000-31865600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:31848000-31867400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:31848000-31868000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr22:31848000-31868400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:31848200-31865800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:31848200-31867600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr22:31848200-31867800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr22:31848200-31868200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:31848200-31868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:31848600-31867400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr22:31848600-31868000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:31848600-31868400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
25	chr22:31849000-31867600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:31849400-31867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:31850200-31871400	Strong transcription	GM12878-XiMat	blood
28	chr22:31850800-31876800	Weak transcription	Esophagus	oesophagus
29	chr22:31854200-31868200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:31855600-31864600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:31856200-31865000	Weak transcription	K562	blood
33	chr22:31856400-31867800	Strong transcription	Fetal Intestine Small	intestine
34	chr22:31856600-31867400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:31857000-31867000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:31857000-31867400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:31857200-31865800	Strong transcription	Fetal Brain Female	brain
39	chr22:31858200-31877800	Weak transcription	Fetal Brain Male	brain
40	chr22:31858400-31864600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
42	chr22:31859000-31875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:31859200-31873600	Weak transcription	A549	lung
44	chr22:31859400-31865000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr22:31859400-31871800	Weak transcription	Hela-S3	cervix
46	chr22:31859400-31873800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr22:31859400-31883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr22:31859400-31884800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr22:31859800-31864000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:31859800-31873600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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