Variant report

Variant	rs62470920
Chromosome Location	chr7:120686560-120686561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:120686527-120686571	K562	blood:	n/a	n/a
2	ARID3A	chr7:120684739-120686576	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120683620..120687088-chr7:120702557..120704732,3	K562	blood:
2	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:

Variant related genes	Relation type
HMGN1P18	TF binding region
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62469958	0.96[EUR][1000 genomes]
rs62470954	1.00[EUR][1000 genomes]
rs62470955	0.93[EUR][1000 genomes]
rs62470956	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62470957	1.00[EUR][1000 genomes]
rs62470958	1.00[EUR][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	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120673400-120689200	Weak transcription	HSMMtube	muscle
2	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:120682000-120687000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:120682000-120689200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:120682000-120689400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:120682000-120689400	Weak transcription	Osteobl	bone
7	chr7:120682200-120687000	Weak transcription	Adipose Nuclei	Adipose
8	chr7:120682200-120687000	Weak transcription	NHDF-Ad	bronchial
9	chr7:120682200-120687600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:120682200-120695800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:120682400-120687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:120682400-120687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:120682400-120688000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
15	chr7:120682600-120692000	Weak transcription	Fetal Stomach	stomach
16	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
17	chr7:120683000-120686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:120683200-120687000	Weak transcription	HSMM	muscle
19	chr7:120683200-120689400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:120683200-120689400	Weak transcription	Right Ventricle	heart
21	chr7:120683600-120687200	Enhancers	Liver	Liver
22	chr7:120683800-120689400	Weak transcription	Ovary	ovary
23	chr7:120683800-120689400	Weak transcription	Psoas Muscle	Psoas
24	chr7:120683800-120690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:120684000-120694000	Weak transcription	Small Intestine	intestine
26	chr7:120684200-120687000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:120684200-120687200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:120684200-120689400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:120684400-120687800	Weak transcription	NHLF	lung
30	chr7:120684400-120689200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:120684400-120689200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:120684400-120689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:120684400-120689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:120684400-120689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:120685000-120689600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:120685200-120687400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:120685400-120687800	Weak transcription	Left Ventricle	heart
38	chr7:120685600-120686600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:120685600-120687800	Weak transcription	Aorta	Aorta
40	chr7:120685600-120688000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:120685600-120688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:120685600-120688200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:120685600-120690000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:120685800-120686800	Weak transcription	Hela-S3	cervix
45	chr7:120685800-120686800	Genic enhancers	K562	blood

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