Variant report

Variant	rs6962260
Chromosome Location	chr7:120714512-120714513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:120713243-120714821	K562	blood:	n/a	n/a
2	ZNF384	chr7:120714307-120714776	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120688120..120689909-chr7:120713674..120716576,3	K562	blood:
2	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
3	chr7:120652112..120653722-chr7:120711850..120714681,2	K562	blood:
4	chr7:120679478..120681225-chr7:120714393..120716184,2	K562	blood:
5	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
6	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
7	chr7:120588429..120592994-chr7:120712560..120717211,6	K562	blood:

No data

Variant related genes	Relation type
CPED1	TF binding region
ENSG00000071243	Chromatin interaction
ENSG00000202225	Chromatin interaction
ENSG00000234927	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10228942	1.00[JPT][hapmap]
rs1024743	0.91[ASN][1000 genomes]
rs10248019	1.00[JPT][hapmap]
rs10268570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221538	1.00[JPT][hapmap]
rs13235373	1.00[JPT][hapmap]
rs17283542	1.00[JPT][hapmap]
rs2110276	0.89[YRI][hapmap]
rs2160013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2192289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215788	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2402554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402556	1.00[ASN][1000 genomes]
rs2402561	1.00[JPT][hapmap]
rs2538485	1.00[YRI][hapmap]
rs2538491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2538492	0.88[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721326	0.89[YRI][hapmap]
rs2721349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721374	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908572	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2908574	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2968344	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4140913	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4144090	1.00[JPT][hapmap]
rs6956851	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6970001	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs759157	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7790569	1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7806509	0.82[AMR][1000 genomes]
rs798932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs798937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs798938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs798939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs798940	1.00[JPT][hapmap]
rs798947	1.00[JPT][hapmap]
rs9641653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690141	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
2	chr7:120692800-120719000	Weak transcription	Left Ventricle	heart
3	chr7:120704200-120716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:120706800-120718200	Weak transcription	Psoas Muscle	Psoas
5	chr7:120707200-120716600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:120708200-120725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:120709600-120718600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:120709600-120718800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:120709800-120716000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:120709800-120716000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:120709800-120716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:120709800-120716200	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:120710000-120716000	Weak transcription	NHLF	lung
14	chr7:120710000-120721200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:120710200-120716000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:120710200-120716400	Weak transcription	HSMMtube	muscle
17	chr7:120710600-120718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:120712000-120716200	Weak transcription	Aorta	Aorta
20	chr7:120712400-120715000	Enhancers	Liver	Liver
21	chr7:120713200-120714600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:120713200-120714800	Genic enhancers	K562	blood
23	chr7:120713600-120714600	Enhancers	Ovary	ovary
24	chr7:120714000-120714600	Enhancers	NHDF-Ad	bronchial
25	chr7:120714200-120715200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:120714200-120715200	Enhancers	NHEK	skin
27	chr7:120714200-120715400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:120714200-120715400	Enhancers	HMEC	breast
29	chr7:120714200-120716400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:120714200-120719400	Weak transcription	HepG2	liver
31	chr7:120714400-120716000	Weak transcription	Adipose Nuclei	Adipose
32	chr7:120714400-120716200	Weak transcription	HSMM	muscle

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