Variant report

Variant	rs2952559
Chromosome Location	chr7:120920169-120920170
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2536148	1.00[JPT][hapmap]
rs2536149	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2536150	1.00[JPT][hapmap]
rs2691034	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs798905	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1027619	chr7:120906437-120976630	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
2	chr7:120888800-120937800	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:120895800-120923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:120909000-120923600	Weak transcription	Fetal Stomach	stomach
5	chr7:120909000-120923600	Weak transcription	Right Ventricle	heart
6	chr7:120909000-120933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:120909200-120923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:120909600-120920600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:120910200-120923600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:120910200-120930000	Weak transcription	Fetal Lung	lung
11	chr7:120910200-120933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:120913000-120920400	Weak transcription	Left Ventricle	heart
13	chr7:120913000-120923600	Weak transcription	Aorta	Aorta
14	chr7:120914400-120922800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:120915800-120920400	Weak transcription	Liver	Liver
16	chr7:120917400-120921000	Strong transcription	Ovary	ovary
17	chr7:120917600-120924000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:120918000-120920200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:120918000-120920600	Genic enhancers	HSMM	muscle
20	chr7:120918200-120920400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:120918200-120921400	Enhancers	NHDF-Ad	bronchial
22	chr7:120918600-120921800	Strong transcription	K562	blood
23	chr7:120919000-120920200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:120919000-120920600	Enhancers	HSMMtube	muscle
25	chr7:120919000-120921800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:120919200-120920200	Enhancers	NH-A	brain
27	chr7:120919400-120924400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:120919600-120920600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:120919800-120921600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:120919800-120921600	Enhancers	Osteobl	bone
31	chr7:120919800-120923600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:120920000-120920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:120920000-120921600	Enhancers	GM12878-XiMat	blood
34	chr7:120920000-120922000	Weak transcription	NHLF	lung

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