Variant report

Variant	rs12706311
Chromosome Location	chr7:120703929-120703930
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120701560..120707048-chr7:120714809..120721907,9	K562	blood:
2	chr7:120703590..120707044-chr7:120707756..120711872,8	K562	blood:
3	chr7:120701678..120704158-chr7:120722578..120725881,3	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10953924	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953925	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11766764	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13246689	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2110280	0.83[ASN][1000 genomes]
rs2896300	0.86[ASN][1000 genomes]
rs6466766	0.82[EUR][1000 genomes];0.89[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
2	chr7:120687800-120706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:120689600-120709400	Weak transcription	HSMMtube	muscle
4	chr7:120690200-120709000	Weak transcription	Right Ventricle	heart
5	chr7:120690200-120709400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:120690400-120704200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:120690400-120704400	Weak transcription	NHDF-Ad	bronchial
8	chr7:120690400-120709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:120690600-120709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:120691200-120709000	Weak transcription	Adipose Nuclei	Adipose
11	chr7:120692800-120719000	Weak transcription	Left Ventricle	heart
12	chr7:120693000-120704400	Weak transcription	Fetal Stomach	stomach
13	chr7:120693400-120704200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:120696600-120709400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:120696600-120709400	Weak transcription	NHLF	lung
16	chr7:120696800-120709200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:120701000-120704800	Strong transcription	HSMM	muscle
18	chr7:120701400-120704400	Strong transcription	K562	blood
19	chr7:120703000-120704200	Weak transcription	Ovary	ovary
20	chr7:120703200-120704000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:120703400-120704200	Weak transcription	Fetal Kidney	kidney
22	chr7:120703400-120704200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:120703400-120704400	Active TSS	Aorta	Aorta
24	chr7:120703400-120709000	Weak transcription	Osteobl	bone
25	chr7:120703600-120706200	Weak transcription	Liver	Liver

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