Variant report

Variant	rs2240982
Chromosome Location	chr7:121012875-121012876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121011907..121014161-chr7:121025726..121027724,2	K562	blood:
2	chr7:121007156..121009116-chr7:121011586..121013929,2	K562	blood:
3	chr7:121012610..121014934-chr7:121028232..121030645,2	K562	blood:
4	chr7:121012261..121016480-chr7:121017791..121020444,4	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10250624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10250907	1.00[ASN][1000 genomes]
rs11768996	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11770098	1.00[ASN][1000 genomes]
rs11771477	1.00[ASN][1000 genomes]
rs12706336	1.00[ASN][1000 genomes]
rs12706337	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12706338	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12706340	1.00[ASN][1000 genomes]
rs12706341	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12706342	1.00[ASN][1000 genomes]
rs17143275	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs1990446	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs1990447	1.00[ASN][1000 genomes]
rs2041490	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2254591	1.00[ASN][1000 genomes]
rs2536153	1.00[ASN][1000 genomes]
rs2536155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2536156	1.00[ASN][1000 genomes]
rs2536157	1.00[ASN][1000 genomes]
rs2536158	0.84[ASN][1000 genomes]
rs2536159	1.00[ASN][1000 genomes]
rs2536160	1.00[ASN][1000 genomes]
rs2536163	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2536164	1.00[ASN][1000 genomes]
rs2536165	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2536166	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2536167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2536168	1.00[ASN][1000 genomes]
rs2536170	1.00[ASN][1000 genomes]
rs2536173	1.00[ASN][1000 genomes]
rs2536174	1.00[ASN][1000 genomes]
rs2536175	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2536176	1.00[ASN][1000 genomes]
rs2536178	1.00[ASN][1000 genomes]
rs2536179	1.00[ASN][1000 genomes]
rs2536184	1.00[ASN][1000 genomes]
rs2536188	0.97[ASN][1000 genomes]
rs2536190	0.97[ASN][1000 genomes]
rs2536191	0.94[ASN][1000 genomes]
rs2707461	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2707462	0.93[ASN][1000 genomes]
rs2707463	1.00[ASN][1000 genomes]
rs2707465	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2707467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2707469	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2707470	0.97[ASN][1000 genomes]
rs2707472	0.97[ASN][1000 genomes]
rs2707473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2707474	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2707475	1.00[ASN][1000 genomes]
rs2707476	1.00[ASN][1000 genomes]
rs2707477	1.00[ASN][1000 genomes]
rs2707478	1.00[ASN][1000 genomes]
rs2707479	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2707480	1.00[ASN][1000 genomes]
rs2707481	1.00[ASN][1000 genomes]
rs2707482	1.00[ASN][1000 genomes]
rs2707491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2707492	1.00[ASN][1000 genomes]
rs2707496	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2707503	0.90[ASN][1000 genomes]
rs2707504	1.00[ASN][1000 genomes]
rs2707505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2707507	0.86[CHB][hapmap];1.00[ASN][1000 genomes]
rs2707516	0.97[ASN][1000 genomes]
rs2908006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2908010	0.94[ASN][1000 genomes]
rs2952564	1.00[ASN][1000 genomes]
rs56293108	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57275855	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60736586	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62476334	0.83[ASN][1000 genomes]
rs6943521	0.85[ASN][1000 genomes]
rs6954568	0.88[ASN][1000 genomes]
rs6956903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6972181	0.94[ASN][1000 genomes]
rs6972247	0.88[ASN][1000 genomes]
rs73440208	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73440215	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73440221	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73720406	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7780789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7782648	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7785478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792993	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs997782	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[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	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120970600-121016800	Weak transcription	Gastric	stomach
2	chr7:120970600-121025400	Weak transcription	Spleen	Spleen
3	chr7:120978800-121017400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:120979800-121019400	Weak transcription	Thymus	Thymus
5	chr7:120979800-121034800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:120980800-121019600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:120981000-121015200	Weak transcription	Pancreas	Pancrea
8	chr7:120984000-121017600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:120984200-121035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:120985200-121013000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:120986200-121029600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:120986400-121026000	Weak transcription	Colonic Mucosa	Colon
13	chr7:120986400-121026000	Weak transcription	Psoas Muscle	Psoas
14	chr7:120989200-121015400	Weak transcription	Brain Anterior Caudate	brain
15	chr7:120989600-121016800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:120993000-121025600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:120993600-121015400	Weak transcription	Esophagus	oesophagus
18	chr7:120994800-121015600	Weak transcription	Lung	lung
19	chr7:120995600-121026200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:120995800-121016000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:120996000-121015400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:120996400-121018400	Strong transcription	HMEC	breast
23	chr7:120998000-121017400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:121000000-121024200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:121000800-121029600	Weak transcription	Brain Angular Gyrus	brain
26	chr7:121001000-121026000	Weak transcription	Aorta	Aorta
27	chr7:121001200-121015600	Weak transcription	Placenta	Placenta
28	chr7:121001800-121015600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:121001800-121023200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:121002000-121023000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:121002200-121022000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:121002200-121025400	Weak transcription	Right Ventricle	heart
33	chr7:121002400-121015400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:121002400-121015400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:121002400-121015400	Weak transcription	Left Ventricle	heart
36	chr7:121002400-121015600	Weak transcription	Fetal Brain Female	brain
37	chr7:121002400-121017000	Weak transcription	Ovary	ovary
38	chr7:121002400-121020400	Weak transcription	Brain Germinal Matrix	brain
39	chr7:121002400-121025800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:121005000-121015400	Weak transcription	Primary T cells from cord blood	blood
41	chr7:121005000-121015400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:121005000-121024000	Weak transcription	Stomach Mucosa	stomach
43	chr7:121005000-121030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:121005200-121035000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:121005800-121023200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:121006200-121013600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:121008400-121015600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:121008600-121013800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:121008600-121020400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:121008600-121025400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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