Variant report

Variant	rs1124534
Chromosome Location	chr2:231064469-231064470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10168052	0.95[ASN][1000 genomes]
rs10177277	0.95[ASN][1000 genomes]
rs10755048	0.83[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs10755049	0.83[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10755050	0.93[ASN][1000 genomes]
rs10804364	0.83[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.92[LWK][hapmap];0.93[ASN][1000 genomes]
rs10933328	0.93[ASN][1000 genomes]
rs11556887	0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs12474611	0.85[ASN][1000 genomes]
rs12474616	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12474683	0.83[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.84[MKK][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12615975	0.89[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12616762	0.93[ASN][1000 genomes]
rs12618921	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12619729	0.83[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs12619732	0.83[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs1469345	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1896258	0.83[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.84[MKK][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1896259	0.83[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.84[MKK][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1978582	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs1978583	0.83[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs1985603	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081714	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2114592	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396709	0.83[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs2396711	0.93[ASN][1000 genomes]
rs3769837	0.96[ASN][1000 genomes]
rs3769839	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41309108	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41345344	0.89[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423848	0.89[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4327229	0.93[ASN][1000 genomes]
rs4327230	0.83[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs4972942	0.96[ASN][1000 genomes]
rs4973285	0.83[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs4973286	0.93[ASN][1000 genomes]
rs4973287	0.83[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs4973288	0.93[ASN][1000 genomes]
rs4973289	0.81[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs4973290	0.95[ASN][1000 genomes]
rs4973291	0.93[ASN][1000 genomes]
rs4973292	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4973293	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4973294	0.82[CHB][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4973296	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4973297	0.96[ASN][1000 genomes]
rs4973298	0.83[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.84[MKK][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs55809057	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55945652	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55956818	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56159955	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275915	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56301614	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56412815	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59536070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61182521	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6436919	0.83[ASN][1000 genomes]
rs6735604	0.83[ASN][1000 genomes]
rs6743028	0.96[ASN][1000 genomes]
rs67469122	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750748	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6752361	0.83[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.92[LWK][hapmap];0.95[ASN][1000 genomes]
rs6755998	0.82[ASN][1000 genomes]
rs72982403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982411	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982413	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72982416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982421	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982424	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73000348	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73000367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561924	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7583769	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7592927	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7603350	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9061	0.86[EUR][1000 genomes]
rs930031	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs930032	0.83[CHB][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs958978	0.83[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231028400-231067000	Strong transcription	Primary B cells from peripheral blood	blood
2	chr2:231035400-231077000	Weak transcription	HepG2	liver
3	chr2:231036800-231071800	Weak transcription	NHEK	skin
4	chr2:231036800-231073600	Weak transcription	HMEC	breast
5	chr2:231038000-231069600	Weak transcription	NHLF	lung
6	chr2:231041400-231064600	Weak transcription	Osteobl	bone
7	chr2:231046200-231069800	Weak transcription	HSMM	muscle
8	chr2:231050200-231065000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:231059000-231082800	Weak transcription	Stomach Mucosa	stomach
10	chr2:231061000-231067000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:231062200-231081600	Strong transcription	Liver	Liver
12	chr2:231062400-231066800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:231062400-231074000	Strong transcription	Primary T cells from cord blood	blood
14	chr2:231062400-231081600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:231062600-231064600	Strong transcription	Brain Cingulate Gyrus	brain
16	chr2:231062600-231066000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:231062600-231066000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:231062600-231066000	Strong transcription	Colon Smooth Muscle	Colon
19	chr2:231062600-231066200	Strong transcription	Thymus	Thymus
20	chr2:231062600-231067600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:231062600-231069400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:231062600-231069600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:231062600-231073200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:231062600-231073600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:231062600-231079200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:231062600-231080600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:231062600-231081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:231062600-231081400	Strong transcription	Adipose Nuclei	Adipose
29	chr2:231062600-231081400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:231062600-231081400	Strong transcription	Fetal Thymus	thymus
31	chr2:231062600-231081600	Strong transcription	Fetal Lung	lung
32	chr2:231062600-231081600	Strong transcription	Placenta	Placenta
33	chr2:231062600-231081600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:231062600-231081600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:231062600-231081800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:231062600-231082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:231062600-231082400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:231062600-231084200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:231062800-231065400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:231062800-231065400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:231062800-231066200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:231062800-231066200	Strong transcription	Left Ventricle	heart
43	chr2:231062800-231066400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr2:231062800-231080600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:231062800-231081000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:231063000-231065000	Weak transcription	Fetal Intestine Large	intestine
47	chr2:231063000-231065400	Weak transcription	Esophagus	oesophagus
48	chr2:231063000-231067600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:231063000-231069600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:231063000-231071800	Weak transcription	NHDF-Ad	bronchial

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