Variant report

Variant	rs6946962
Chromosome Location	chr7:124552880-124552881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124550905..124554322-chr7:124566903..124570128,4	K562	blood:
2	chr7:124551396..124553692-chr7:124554817..124557525,2	K562	blood:

Variant related genes	Relation type
ENSG00000224897	Chromatin interaction
ENSG00000128513	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10230948	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234698	0.87[ASN][1000 genomes]
rs10241745	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10256073	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs10266152	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs10268290	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10280030	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1031952	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs1034794	0.85[ASN][1000 genomes]
rs1034795	0.85[ASN][1000 genomes]
rs10954061	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs11761435	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs11766412	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767519	0.87[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768553	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770818	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771004	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs11772420	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11972411	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978268	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12532038	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12533661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534967	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12534983	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537983	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12539481	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706625	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706627	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222197	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13228358	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1404897	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs1471570	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs1541417	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17147465	0.87[ASN][1000 genomes]
rs17147723	0.81[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17147889	0.85[CHB][hapmap]
rs2101100	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2127968	0.87[EUR][1000 genomes]
rs2127969	0.86[EUR][1000 genomes]
rs2127970	0.87[EUR][1000 genomes]
rs2291207	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299904	0.83[CHB][hapmap]
rs2402754	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2402761	0.85[EUR][1000 genomes]
rs28820412	0.86[EUR][1000 genomes]
rs2929322	0.85[CHB][hapmap]
rs33964002	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326887	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35146319	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35423300	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35550222	0.84[ASN][1000 genomes]
rs4141073	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4141075	0.81[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4360236	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4501522	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4639456	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4728005	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4728007	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4731210	0.88[ASN][1000 genomes]
rs60678110	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62480260	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62480274	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466951	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466959	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943703	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943797	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6945563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963885	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965957	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs6966054	0.81[CHB][hapmap]
rs6968018	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs716991	0.88[ASN][1000 genomes]
rs7782296	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7782351	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784168	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7784285	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786989	0.86[EUR][1000 genomes]
rs7787570	0.85[EUR][1000 genomes]
rs7787804	0.95[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7794637	0.90[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7795610	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7796751	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7801755	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806890	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811124	0.80[CEU][hapmap]
rs9656320	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs967297	0.81[CEU][hapmap];0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv608342	chr7:124549573-124600505	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 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	chr7:124529800-124553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:124529800-124564400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:124530000-124569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:124531400-124559800	Weak transcription	Ovary	ovary
15	chr7:124532000-124569000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:124532600-124562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:124532600-124568400	Weak transcription	NHDF-Ad	bronchial
18	chr7:124532600-124568800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:124532600-124569000	Weak transcription	HSMM	muscle
20	chr7:124532800-124557000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:124532800-124559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:124532800-124568400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:124532800-124569000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:124533200-124562800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:124534600-124558400	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:124535000-124556800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:124535800-124563000	Weak transcription	Primary T cells from cord blood	blood
28	chr7:124537400-124553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:124537800-124566000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:124538000-124553200	Weak transcription	Fetal Lung	lung
31	chr7:124538000-124554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:124538000-124555000	Weak transcription	Dnd41	blood
33	chr7:124538000-124569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:124539400-124556800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:124541000-124553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:124541000-124568600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:124541000-124569000	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:124541400-124553200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:124541400-124554600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:124541400-124556800	Weak transcription	Right Ventricle	heart
41	chr7:124541400-124557000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:124541400-124557000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:124541400-124557000	Weak transcription	Gastric	stomach
44	chr7:124541400-124562000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:124541400-124568800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:124541400-124568800	Weak transcription	Fetal Intestine Small	intestine
47	chr7:124541400-124569000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:124541400-124569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:124541400-124569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:124541400-124569400	Weak transcription	Lung	lung

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