Variant report

Variant	rs73471137
Chromosome Location	chr7:116429234-116429235
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12533223	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17138978	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138983	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139063	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17139068	0.87[AMR][1000 genomes]
rs2237716	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607430	0.82[AMR][1000 genomes]
rs3807996	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58086374	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61248776	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61657532	0.87[AMR][1000 genomes]
rs6949201	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73471107	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73471159	0.87[AMR][1000 genomes]
rs7779694	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	chr7:116423000-116431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:116423000-116439000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:116423000-116442600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:116423200-116430800	Strong transcription	HMEC	breast
9	chr7:116423200-116431000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:116423200-116432200	Strong transcription	NHEK	skin
11	chr7:116423200-116435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:116423200-116438000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:116423400-116432600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:116423600-116431000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:116424000-116440800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:116424200-116432600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:116424200-116440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:116424200-116445400	Weak transcription	Left Ventricle	heart
19	chr7:116424400-116434400	Weak transcription	Hela-S3	cervix
20	chr7:116424600-116434400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:116425000-116440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:116425800-116429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:116425800-116435600	Weak transcription	Fetal Stomach	stomach
24	chr7:116426200-116440800	Weak transcription	HSMMtube	muscle
25	chr7:116426400-116429800	Enhancers	Liver	Liver
26	chr7:116426400-116434400	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:116427000-116440800	Weak transcription	NHDF-Ad	bronchial
28	chr7:116427200-116432600	Strong transcription	A549	lung
29	chr7:116427200-116434600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:116427200-116437400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:116427400-116429600	Strong transcription	HSMM	muscle
32	chr7:116427400-116432200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:116427400-116433400	Weak transcription	Fetal Intestine Small	intestine
34	chr7:116427400-116434600	Weak transcription	HUVEC	blood vessel
35	chr7:116427400-116440200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:116427400-116445200	Weak transcription	Pancreas	Pancrea
37	chr7:116427600-116435600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:116427800-116435600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:116427800-116435600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:116428400-116429400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr7:116428400-116429600	Enhancers	Fetal Lung	lung
42	chr7:116428600-116429600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr7:116428600-116429600	Strong transcription	Psoas Muscle	Psoas
44	chr7:116428600-116430800	Strong transcription	Osteobl	bone
45	chr7:116428800-116430200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:116428800-116430200	Strong transcription	NH-A	brain
47	chr7:116428800-116430400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:116429000-116434000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:116429000-116436400	Weak transcription	HepG2	liver
50	chr7:116429200-116430600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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