Variant report

Variant	rs62236225
Chromosome Location	chr22:31874794-31874795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
2	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
3	22:31864703-31891033..22:32347255-32351014	K562	blood:

Variant related genes	Relation type
ENSG00000214093	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000229169	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018487	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1018488	0.83[ASN][1000 genomes]
rs12160763	0.84[EUR][1000 genomes]
rs12165609	0.83[ASN][1000 genomes]
rs12168645	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130089	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13433626	0.83[ASN][1000 genomes]
rs16989274	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989278	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989279	1.00[ASN][1000 genomes]
rs16989312	1.00[AMR][1000 genomes];0.88[EUR][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];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989385	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989617	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989620	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989623	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989635	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989638	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989650	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989682	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989753	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989760	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009893	0.83[ASN][1000 genomes]
rs2180142	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs41302569	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs45594940	0.83[ASN][1000 genomes]
rs55648708	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55673702	0.83[ASN][1000 genomes]
rs55684328	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55728055	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55734125	0.83[ASN][1000 genomes]
rs55806621	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55844032	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55853109	1.00[AMR][1000 genomes];0.96[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];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56112397	0.88[EUR][1000 genomes]
rs56150546	0.83[ASN][1000 genomes]
rs56156742	1.00[AMR][1000 genomes];0.88[EUR][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	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56318295	0.83[ASN][1000 genomes]
rs56355520	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56385611	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56411340	0.83[ASN][1000 genomes]
rs57103115	0.83[ASN][1000 genomes]
rs5753700	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57886497	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58365021	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58807171	0.83[ASN][1000 genomes]
rs58825043	0.86[ASN][1000 genomes]
rs60324934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236215	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236218	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236223	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236224	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236226	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62236230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236231	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236258	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237761	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237764	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237765	1.00[ASN][1000 genomes]
rs62237766	1.00[AMR][1000 genomes];0.96[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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237770	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237772	1.00[ASN][1000 genomes]
rs62237773	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237774	1.00[ASN][1000 genomes]
rs62237775	1.00[ASN][1000 genomes]
rs62237790	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237791	0.83[ASN][1000 genomes]
rs62237793	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237794	0.83[ASN][1000 genomes]
rs62237796	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237797	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237798	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237800	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237801	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237806	0.83[ASN][1000 genomes]
rs62237808	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237809	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237812	1.00[AMR][1000 genomes];0.88[EUR][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];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237819	0.83[ASN][1000 genomes]
rs62237829	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237832	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237833	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237834	1.00[AMR][1000 genomes];0.88[EUR][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];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237839	0.83[ASN][1000 genomes]
rs62237841	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237843	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237845	1.00[AMR][1000 genomes];0.88[EUR][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];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237850	0.83[ASN][1000 genomes]
rs62237852	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237857	0.83[ASN][1000 genomes]
rs62239168	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239169	1.00[AMR][1000 genomes];0.88[EUR][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];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239181	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239182	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239183	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6518753	0.83[ASN][1000 genomes]
rs66666267	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67935422	0.83[ASN][1000 genomes]
rs7285091	1.00[AMR][1000 genomes];0.88[EUR][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];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7290517	1.00[AMR][1000 genomes];0.88[EUR][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]
rs73158601	0.84[EUR][1000 genomes]
rs73160635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160655	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160658	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73160700	1.00[AMR][1000 genomes];0.88[EUR][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];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8142002	0.83[ASN][1000 genomes]
rs8142355	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8142821	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619215	0.83[ASN][1000 genomes]
rs9619217	0.83[ASN][1000 genomes]
rs9621295	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9621299	0.83[ASN][1000 genomes]
rs9680589	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[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	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	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

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	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
7	chr22:31850800-31876800	Weak transcription	Esophagus	oesophagus
8	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:31858200-31877800	Weak transcription	Fetal Brain Male	brain
11	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
12	chr22:31859000-31875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:31859400-31883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr22:31859400-31884800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:31860000-31882600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:31860200-31875800	Weak transcription	Brain Angular Gyrus	brain
17	chr22:31860200-31884800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:31863000-31877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:31863400-31879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:31864000-31875000	Weak transcription	Fetal Kidney	kidney
21	chr22:31864200-31875600	Weak transcription	HMEC	breast
22	chr22:31864400-31877600	Weak transcription	Small Intestine	intestine
23	chr22:31864400-31879800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr22:31864400-31884400	Weak transcription	Brain Substantia Nigra	brain
25	chr22:31864400-31884600	Weak transcription	Aorta	Aorta
26	chr22:31864600-31884600	Weak transcription	Right Ventricle	heart
27	chr22:31865200-31876800	Weak transcription	Gastric	stomach
28	chr22:31865400-31877000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr22:31865600-31876000	Weak transcription	Fetal Lung	lung
30	chr22:31865600-31877200	Weak transcription	K562	blood
31	chr22:31865600-31877200	Weak transcription	NHLF	lung
32	chr22:31865800-31876600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:31865800-31877000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr22:31865800-31877400	Weak transcription	Spleen	Spleen
35	chr22:31865800-31877600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr22:31865800-31880000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:31866800-31877000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:31867200-31876000	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:31867400-31876800	Weak transcription	Brain Anterior Caudate	brain
40	chr22:31867400-31880800	Weak transcription	Colon Smooth Muscle	Colon
41	chr22:31867600-31875000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:31867600-31875200	Weak transcription	Thymus	Thymus
43	chr22:31867600-31884600	Weak transcription	Pancreas	Pancrea
44	chr22:31868800-31884200	Strong transcription	HSMM	muscle
45	chr22:31870000-31883400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr22:31870400-31883600	Strong transcription	Fetal Intestine Large	intestine
47	chr22:31870800-31878200	Strong transcription	HepG2	liver
48	chr22:31870800-31879400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr22:31870800-31879800	Strong transcription	Dnd41	blood
50	chr22:31870800-31883600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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