Variant report

Variant	rs690686
Chromosome Location	chr7:129211489-129211490
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	chr7:129210983..129214247-chr7:129215750..129217640,3	K562	blood:
2	chr7:129209733..129212698-chr7:129296003..129298548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106459	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10215964	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10226046	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10245497	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10275592	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10808238	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954244	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954246	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1450878	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1562833	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1619066	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1732008	0.85[AFR][1000 genomes]
rs1975644	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402958	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2896418	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2896419	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4520104	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4728171	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731600	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs602616	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6467252	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467253	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467255	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs676366	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs690662	0.83[AFR][1000 genomes]
rs6954452	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961102	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6966688	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6967348	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7788769	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7797035	0.85[EUR][1000 genomes]
rs7802041	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7805465	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs896156	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9690361	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9691578	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9792084	0.80[AMR][1000 genomes];0.88[EUR][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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129198600-129216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:129209800-129211800	Enhancers	HepG2	liver
3	chr7:129209800-129214000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:129209800-129214200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:129209800-129214200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:129209800-129214200	Weak transcription	Stomach Mucosa	stomach
7	chr7:129209800-129214200	Weak transcription	HSMM	muscle
8	chr7:129209800-129214200	Weak transcription	HSMMtube	muscle
9	chr7:129210400-129214200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:129210400-129214200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:129210400-129214200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:129210400-129214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:129210400-129214200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:129210400-129214200	Weak transcription	NHEK	skin
15	chr7:129210400-129214200	Weak transcription	NHLF	lung
16	chr7:129210400-129214200	Weak transcription	Osteobl	bone
17	chr7:129210600-129214200	Weak transcription	NHDF-Ad	bronchial
18	chr7:129211000-129212400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:129211400-129214400	Weak transcription	A549	lung

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