Variant report

Variant	rs73471139
Chromosome Location	chr7:116432789-116432790
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	7:115861595-115870968..7:116430464-116433150	GM12878	blood:
2	chr7:116426630..116429182-chr7:116432442..116434146,2	MCF-7	breast:
3	chr7:116431432..116434327-chr7:116437378..116438880,2	MCF-7	breast:
4	7:115847372-115857098..7:116430464-116433150	H1-hESC	embryonic stem cell:	embryo
5	7:115890993-115892266..7:116430464-116433150	H1-hESC	embryonic stem cell:	embryo
6	chr7:116420793..116424066-chr7:116430514..116433680,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10085533	1.00[AMR][1000 genomes]
rs10225438	1.00[AMR][1000 genomes]
rs10231839	1.00[AMR][1000 genomes]
rs10237255	1.00[AMR][1000 genomes]
rs10246090	1.00[AMR][1000 genomes]
rs10249156	1.00[AMR][1000 genomes]
rs10264289	1.00[AMR][1000 genomes]
rs10269134	1.00[AMR][1000 genomes]
rs10270658	1.00[AMR][1000 genomes]
rs13438538	1.00[AMR][1000 genomes]
rs59673590	1.00[AMR][1000 genomes]
rs73471130	0.92[AFR][1000 genomes]
rs73473205	1.00[AMR][1000 genomes]
rs73473213	1.00[AMR][1000 genomes]
rs73473239	1.00[AMR][1000 genomes]
rs73473243	1.00[AMR][1000 genomes]
rs73714198	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116418000-116437600	Weak transcription	Spleen	Spleen
2	chr7:116421800-116435800	Weak transcription	Aorta	Aorta
3	chr7:116421800-116444000	Weak transcription	Esophagus	oesophagus
4	chr7:116422000-116435800	Weak transcription	Placenta	Placenta
5	chr7:116423000-116439000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:116423000-116442600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:116423200-116435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:116423200-116438000	Weak transcription	Adipose Nuclei	Adipose
9	chr7:116424000-116440800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:116424200-116440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:116424200-116445400	Weak transcription	Left Ventricle	heart
12	chr7:116424400-116434400	Weak transcription	Hela-S3	cervix
13	chr7:116424600-116434400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:116425000-116440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:116425800-116435600	Weak transcription	Fetal Stomach	stomach
16	chr7:116426200-116440800	Weak transcription	HSMMtube	muscle
17	chr7:116426400-116434400	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:116427000-116440800	Weak transcription	NHDF-Ad	bronchial
19	chr7:116427200-116434600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:116427200-116437400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:116427400-116433400	Weak transcription	Fetal Intestine Small	intestine
22	chr7:116427400-116434600	Weak transcription	HUVEC	blood vessel
23	chr7:116427400-116440200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:116427400-116445200	Weak transcription	Pancreas	Pancrea
25	chr7:116427600-116435600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:116427800-116435600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:116427800-116435600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:116429000-116434000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:116429000-116436400	Weak transcription	HepG2	liver
30	chr7:116429200-116434000	Weak transcription	Stomach Mucosa	stomach
31	chr7:116429600-116434200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:116429600-116434200	Weak transcription	HSMM	muscle
33	chr7:116429600-116441200	Weak transcription	Fetal Lung	lung
34	chr7:116429800-116434400	Weak transcription	Liver	Liver
35	chr7:116430200-116432800	Weak transcription	NH-A	brain
36	chr7:116430200-116435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:116430200-116436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:116430800-116435400	Weak transcription	Osteobl	bone
39	chr7:116430800-116435600	Weak transcription	HMEC	breast
40	chr7:116430800-116440000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:116431000-116434200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:116431000-116435800	Weak transcription	Psoas Muscle	Psoas
43	chr7:116432200-116432800	Genic enhancers	NHEK	skin
44	chr7:116432200-116433200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:116432400-116433200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:116432400-116439200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:116432600-116433000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr7:116432600-116433000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr7:116432600-116433000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:116432600-116433000	Genic enhancers	A549	lung

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