Variant report

Variant	rs73160635
Chromosome Location	chr22:31891200-31891201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr22:31891182-31891206	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31890586..31892478-chr6:26238591..26241305,2	MCF-7	breast:
2	chr22:31849740..31852347-chr22:31891078..31892965,2	K562	blood:
3	chr22:31890350..31892385-chr22:32144551..32147460,2	K562	blood:

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000240591	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000198327	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

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]
rs16989427	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	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989682	0.89[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	0.85[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	0.85[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	1.00[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	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236224	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236226	0.96[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236232	1.00[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]
rs62240685	1.00[AMR][1000 genomes];0.88[EUR][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]
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	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];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	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
5	esv3334530	chr22:31889221-31909085	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr22:31887000-31891400	Weak transcription	Left Ventricle	heart
2	chr22:31887000-31891400	Weak transcription	Right Atrium	heart
3	chr22:31887000-31891600	Weak transcription	Right Ventricle	heart
4	chr22:31887000-31892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:31887000-31892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:31887000-31892000	Weak transcription	Lung	lung
7	chr22:31887000-31892000	Weak transcription	Pancreas	Pancrea
8	chr22:31887200-31891200	Weak transcription	Fetal Stomach	stomach
9	chr22:31887200-31891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:31887200-31891400	Weak transcription	Colonic Mucosa	Colon
11	chr22:31887200-31891400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:31887200-31891400	Weak transcription	Thymus	Thymus
13	chr22:31887200-31891600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:31887200-31891600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:31887200-31891600	Weak transcription	Stomach Mucosa	stomach
16	chr22:31887200-31892000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr22:31887400-31891200	Weak transcription	Fetal Intestine Small	intestine
18	chr22:31887400-31891200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:31887400-31891400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:31887400-31891400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:31887400-31891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:31887400-31891400	Weak transcription	Adipose Nuclei	Adipose
23	chr22:31887400-31891400	Weak transcription	Brain Angular Gyrus	brain
24	chr22:31887400-31891400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr22:31887400-31891400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31887400-31891400	Weak transcription	Hela-S3	cervix
27	chr22:31887400-31891600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:31887400-31891600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:31887400-31891600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr22:31887400-31891600	Weak transcription	Brain Substantia Nigra	brain
31	chr22:31887400-31891600	Weak transcription	Fetal Brain Male	brain
32	chr22:31887400-31891600	Weak transcription	Fetal Kidney	kidney
33	chr22:31887400-31891600	Weak transcription	Fetal Lung	lung
34	chr22:31887400-31891600	Weak transcription	A549	lung
35	chr22:31887400-31891600	Weak transcription	HMEC	breast
36	chr22:31887400-31891600	Weak transcription	HSMM	muscle
37	chr22:31887400-31891600	Weak transcription	HSMMtube	muscle
38	chr22:31887400-31891600	Weak transcription	NH-A	brain
39	chr22:31887400-31891600	Weak transcription	NHDF-Ad	bronchial
40	chr22:31887400-31891600	Weak transcription	Osteobl	bone
41	chr22:31887400-31891800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr22:31887400-31892000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:31887400-31892000	Weak transcription	Spleen	Spleen
44	chr22:31887600-31891200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr22:31887600-31891200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:31887600-31891400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:31887600-31891400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:31887600-31891400	Weak transcription	Liver	Liver
49	chr22:31887600-31891400	Weak transcription	Brain Anterior Caudate	brain
50	chr22:31887600-31891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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