Variant report

Variant	rs7288051
Chromosome Location	chr22:32013816-32013817
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr22:31999831..32002168-chr22:32013735..32015818,2	K562	blood:
5	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
6	22:32012966-32043914..22:32665993-32670527	K562	blood:
7	chr22:32013812..32017033-chr22:32024155..32027288,4	MCF-7	breast:
8	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
9	22:32012966-32043914..22:32529813-32538538	K562	blood:
10	22:32012966-32043914..22:32846948-32860159	K562	blood:
11	chr22:32011211..32013960-chr22:32020685..32023584,2	MCF-7	breast:
12	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230866	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000229169	Chromatin interaction

Extended variants
information (count: 160 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

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[CEU][hapmap];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[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989279	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs16989312	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989334	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16989336	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16989337	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs16989379	1.00[CEU][hapmap];1.00[YRI][hapmap];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	0.82[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989617	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs16989620	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs16989635	1.00[CEU][hapmap]
rs16989682	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989753	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989760	1.00[CEU][hapmap];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[CEU][hapmap];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]
rs5998079	1.00[YRI][hapmap]
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]
rs62237833	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[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285893	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7286496	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7287417	1.00[ASN][1000 genomes]
rs7287509	1.00[ASN][1000 genomes]
rs7287516	1.00[ASN][1000 genomes]
rs7290517	1.00[CEU][hapmap];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[CEU][hapmap];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[YRI][hapmap];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[CEU][hapmap];1.00[ASN][1000 genomes]
rs9619217	1.00[CEU][hapmap];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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
2	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:31976200-32014800	Weak transcription	A549	lung
4	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
6	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:31998400-32015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:31998600-32022000	Weak transcription	Fetal Kidney	kidney
14	chr22:31999000-32014600	Weak transcription	NHDF-Ad	bronchial
15	chr22:31999400-32014800	Weak transcription	NH-A	brain
16	chr22:32000200-32014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr22:32003600-32022000	Strong transcription	Dnd41	blood
18	chr22:32006800-32015000	Weak transcription	Aorta	Aorta
19	chr22:32007200-32014000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:32007400-32014800	Weak transcription	Fetal Lung	lung
21	chr22:32008000-32014600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr22:32008000-32014600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:32008000-32021200	Weak transcription	Fetal Heart	heart
24	chr22:32008000-32022600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr22:32008600-32015000	Genic enhancers	Fetal Intestine Large	intestine
26	chr22:32008800-32015000	Genic enhancers	Fetal Intestine Small	intestine
27	chr22:32009600-32021800	Strong transcription	Primary T cells from cord blood	blood
28	chr22:32010200-32025600	Genic enhancers	Placenta	Placenta
29	chr22:32011400-32020000	Strong transcription	Fetal Stomach	stomach
30	chr22:32011600-32018800	Strong transcription	Brain Germinal Matrix	brain
31	chr22:32011800-32014600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr22:32012000-32014000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:32012200-32018600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:32012200-32019000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr22:32012200-32019800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:32012200-32020600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:32012200-32022600	Strong transcription	Thymus	Thymus
38	chr22:32012400-32014400	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr22:32012400-32014400	Strong transcription	NHEK	skin
40	chr22:32012400-32018200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:32012400-32018200	Strong transcription	Fetal Brain Female	brain
42	chr22:32012400-32019000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr22:32012400-32020200	Strong transcription	Fetal Thymus	thymus
44	chr22:32012600-32014000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr22:32012600-32014200	Genic enhancers	Fetal Muscle Leg	muscle
46	chr22:32012600-32014600	Weak transcription	Brain Substantia Nigra	brain
47	chr22:32012600-32014800	Weak transcription	K562	blood
48	chr22:32012600-32015200	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr22:32012600-32016200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr22:32012600-32017000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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