Variant report

Variant	rs6466959
Chromosome Location	chr7:124542126-124542127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10230948	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234698	0.87[ASN][1000 genomes]
rs10241745	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10268290	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10280030	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10281773	0.81[EUR][1000 genomes]
rs1034794	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1034795	0.85[ASN][1000 genomes]
rs11766412	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767519	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768553	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770818	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772420	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11972411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978268	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12532038	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12533661	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534967	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12534983	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537983	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538061	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12539481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706625	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13228358	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13240050	0.81[EUR][1000 genomes]
rs1481334	0.81[EUR][1000 genomes]
rs1541417	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17147465	0.87[ASN][1000 genomes]
rs17147723	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2101100	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2127968	0.86[EUR][1000 genomes]
rs2127969	0.85[EUR][1000 genomes]
rs2127970	0.86[EUR][1000 genomes]
rs2291207	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402754	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2402761	0.84[EUR][1000 genomes]
rs28820412	0.85[EUR][1000 genomes]
rs33964002	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326887	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35146319	0.89[EUR][1000 genomes]
rs35423300	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35550222	0.84[ASN][1000 genomes]
rs4141073	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4360236	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4501522	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4728007	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4731210	0.88[ASN][1000 genomes]
rs60678110	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62480260	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62480274	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466951	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6943703	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943797	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6945563	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946962	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963885	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968018	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs716991	0.88[ASN][1000 genomes]
rs719974	0.81[EUR][1000 genomes]
rs727521	0.81[EUR][1000 genomes]
rs7782296	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7782351	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784168	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7784285	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786989	0.85[EUR][1000 genomes]
rs7787570	0.84[EUR][1000 genomes]
rs7787804	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7794637	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7795610	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7796751	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7801755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804052	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806890	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656320	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1829082	chr7:124503189-124556473	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv2756137	chr7:124521049-124558049	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv525729	chr7:124538036-124549573	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
5	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
6	chr7:124522800-124568400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:124527600-124562200	Weak transcription	A549	lung
8	chr7:124527600-124569000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:124527600-124569000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:124528000-124567400	Weak transcription	HepG2	liver
11	chr7:124528400-124542800	Weak transcription	Spleen	Spleen
12	chr7:124529200-124542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:124529800-124553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:124529800-124564400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:124530000-124569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:124531000-124542600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:124531400-124559800	Weak transcription	Ovary	ovary
18	chr7:124532000-124569000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:124532600-124552400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:124532600-124562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:124532600-124568400	Weak transcription	NHDF-Ad	bronchial
22	chr7:124532600-124568800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:124532600-124569000	Weak transcription	HSMM	muscle
24	chr7:124532800-124557000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:124532800-124559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:124532800-124568400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:124532800-124569000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:124533200-124562800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:124534000-124550000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:124534600-124558400	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:124535000-124556800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:124535400-124551800	Weak transcription	K562	blood
33	chr7:124535600-124551800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:124535800-124552400	Weak transcription	Primary B cells from cord blood	blood
35	chr7:124535800-124563000	Weak transcription	Primary T cells from cord blood	blood
36	chr7:124537400-124553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:124537800-124566000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:124538000-124552800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:124538000-124552800	Weak transcription	Liver	Liver
40	chr7:124538000-124553200	Weak transcription	Fetal Lung	lung
41	chr7:124538000-124554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:124538000-124555000	Weak transcription	Dnd41	blood
43	chr7:124538000-124569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:124539400-124556800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:124540400-124542200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:124541000-124553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:124541000-124568600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:124541000-124569000	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:124541200-124552800	Weak transcription	Left Ventricle	heart
50	chr7:124541400-124543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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