Variant report

Variant	rs62236258
Chromosome Location	chr22:31918822-31918823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31915170..31916943-chr22:31918334..31921689,3	K562	blood:

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1018487	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1018488	0.83[ASN][1000 genomes]
rs12165609	0.83[ASN][1000 genomes]
rs12168645	0.83[ASN][1000 genomes]
rs130089	1.00[ASN][1000 genomes]
rs13433626	0.83[ASN][1000 genomes]
rs16989274	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989278	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989279	1.00[ASN][1000 genomes]
rs16989312	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16989334	0.83[ASN][1000 genomes]
rs16989336	0.83[ASN][1000 genomes]
rs16989379	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16989385	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16989427	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16989617	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989620	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989623	0.86[ASN][1000 genomes]
rs16989635	0.86[ASN][1000 genomes]
rs16989638	0.86[ASN][1000 genomes]
rs16989650	0.86[ASN][1000 genomes]
rs16989682	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989753	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989760	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2009893	0.83[ASN][1000 genomes]
rs2180142	0.86[ASN][1000 genomes]
rs41302569	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs45594940	0.83[ASN][1000 genomes]
rs55648708	0.83[ASN][1000 genomes]
rs55673702	0.83[ASN][1000 genomes]
rs55684328	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55728055	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55734125	0.83[ASN][1000 genomes]
rs55806621	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55844032	0.83[ASN][1000 genomes]
rs55853109	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55868468	0.83[ASN][1000 genomes]
rs55894054	0.83[ASN][1000 genomes]
rs55916646	0.83[ASN][1000 genomes]
rs55931230	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56150546	0.83[ASN][1000 genomes]
rs56156742	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56211407	0.83[ASN][1000 genomes]
rs56227594	0.83[ASN][1000 genomes]
rs56298010	0.83[ASN][1000 genomes]
rs56314242	0.86[ASN][1000 genomes]
rs56318295	0.83[ASN][1000 genomes]
rs56355520	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56385611	0.86[ASN][1000 genomes]
rs56411340	0.83[ASN][1000 genomes]
rs57103115	0.83[ASN][1000 genomes]
rs5753700	1.00[ASN][1000 genomes]
rs57886497	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58365021	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58807171	0.83[ASN][1000 genomes]
rs58825043	0.86[ASN][1000 genomes]
rs60324934	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60359561	0.83[ASN][1000 genomes]
rs60907110	1.00[ASN][1000 genomes]
rs61151238	0.83[ASN][1000 genomes]
rs61561528	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62236215	0.86[ASN][1000 genomes]
rs62236218	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236223	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236224	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236225	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236226	0.81[EUR][1000 genomes]
rs62236230	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236231	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236232	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236257	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237760	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237761	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62237764	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237765	1.00[ASN][1000 genomes]
rs62237766	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237767	1.00[ASN][1000 genomes]
rs62237768	1.00[ASN][1000 genomes]
rs62237769	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237770	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62237772	1.00[ASN][1000 genomes]
rs62237773	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62237774	1.00[ASN][1000 genomes]
rs62237775	1.00[ASN][1000 genomes]
rs62237790	0.83[ASN][1000 genomes]
rs62237791	0.83[ASN][1000 genomes]
rs62237793	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237794	0.83[ASN][1000 genomes]
rs62237796	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237797	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237798	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237800	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237801	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237806	0.83[ASN][1000 genomes]
rs62237808	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237809	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237812	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237813	0.83[ASN][1000 genomes]
rs62237814	0.83[ASN][1000 genomes]
rs62237818	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237819	0.83[ASN][1000 genomes]
rs62237829	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237832	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237833	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237834	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237836	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237837	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237838	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237839	0.83[ASN][1000 genomes]
rs62237841	0.83[ASN][1000 genomes]
rs62237843	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237845	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237846	0.83[ASN][1000 genomes]
rs62237847	0.83[ASN][1000 genomes]
rs62237848	0.83[ASN][1000 genomes]
rs62237849	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237850	0.83[ASN][1000 genomes]
rs62237852	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62237857	0.83[ASN][1000 genomes]
rs62239168	0.83[ASN][1000 genomes]
rs62239169	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62239172	0.83[ASN][1000 genomes]
rs62239174	0.83[ASN][1000 genomes]
rs62239180	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62239181	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62239182	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62239183	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62240685	1.00[AMR][1000 genomes]
rs62240689	0.83[ASN][1000 genomes]
rs6518753	0.83[ASN][1000 genomes]
rs66666267	1.00[AMR][1000 genomes]
rs67935422	0.83[ASN][1000 genomes]
rs7285091	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7285893	0.83[ASN][1000 genomes]
rs7286496	0.83[ASN][1000 genomes]
rs7287417	0.83[ASN][1000 genomes]
rs7287509	0.83[ASN][1000 genomes]
rs7287516	0.83[ASN][1000 genomes]
rs7288051	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7290517	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7292913	0.83[ASN][1000 genomes]
rs7292915	0.83[ASN][1000 genomes]
rs7293143	0.83[ASN][1000 genomes]
rs73160635	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160655	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73160658	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73160700	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73162106	0.83[ASN][1000 genomes]
rs73162112	0.83[ASN][1000 genomes]
rs8137314	0.83[ASN][1000 genomes]
rs8139274	0.83[ASN][1000 genomes]
rs8139560	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8142002	0.83[ASN][1000 genomes]
rs8142355	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8142821	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619215	0.83[ASN][1000 genomes]
rs9619217	0.83[ASN][1000 genomes]
rs9621295	0.83[ASN][1000 genomes]
rs9621299	0.83[ASN][1000 genomes]
rs9680589	0.86[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	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
2	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
3	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
4	nsv1059314	chr22:31893613-31936088	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv914978	chr22:31897795-31942770	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893200-31934800	Weak transcription	Ovary	ovary
2	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:31893600-31925600	Weak transcription	Gastric	stomach
5	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
8	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
10	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
12	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
15	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
17	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:31893800-31934800	Weak transcription	HMEC	breast
19	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
20	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
23	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:31897200-31924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:31898000-31934800	Weak transcription	Spleen	Spleen
26	chr22:31900200-31926400	Weak transcription	HSMM	muscle
27	chr22:31900800-31919000	Weak transcription	HUVEC	blood vessel
28	chr22:31900800-31940800	Weak transcription	NHEK	skin
29	chr22:31901000-31926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:31901000-31926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:31901800-31926000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr22:31903400-31934400	Weak transcription	Hela-S3	cervix
33	chr22:31904400-31944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:31905000-31926400	Weak transcription	NHDF-Ad	bronchial
35	chr22:31905200-31957200	Weak transcription	A549	lung
36	chr22:31905600-31921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:31905600-31925600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr22:31905600-31926400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:31905600-31928800	Weak transcription	Aorta	Aorta
40	chr22:31905600-31946200	Weak transcription	Esophagus	oesophagus
41	chr22:31905800-31926400	Weak transcription	Osteobl	bone
42	chr22:31905800-31926600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr22:31905800-31926600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr22:31907400-31924000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:31907400-31946400	Weak transcription	Brain Germinal Matrix	brain
46	chr22:31907400-31946600	Weak transcription	Left Ventricle	heart
47	chr22:31907600-31946200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr22:31907800-31934400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:31907800-31942800	Weak transcription	Fetal Intestine Large	intestine
50	chr22:31908000-31926400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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