Variant report

Variant	rs9690361
Chromosome Location	chr7:129236402-129236403
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129234351..129237534-chr7:129248958..129252708,4	K562	blood:
2	chr7:129234956..129236519-chr7:129244483..129247189,2	K562	blood:
3	chr7:129225683..129228250-chr7:129235527..129238375,2	MCF-7	breast:
4	chr7:129232654..129235191-chr7:129235387..129237380,2	MCF-7	breast:
5	chr7:129234439..129238001-chr7:129248839..129253775,5	K562	blood:

Variant related genes	Relation type
ENSG00000106459	Chromatin interaction
ENSG00000273329	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10215964	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10226046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10245497	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10249998	0.80[EUR][1000 genomes]
rs10275592	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10279839	0.80[EUR][1000 genomes]
rs10808238	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954244	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10954246	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1450878	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1562833	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1619066	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1975644	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2402958	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2896418	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2896419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4520104	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4728171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731600	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4731607	0.86[EUR][1000 genomes]
rs602616	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6467252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467253	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467255	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs676366	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs690686	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6954452	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961102	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6966688	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6967348	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7788769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7797035	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7799885	0.86[EUR][1000 genomes]
rs7802041	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7805465	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs896156	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9691578	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9792084	0.88[AMR][1000 genomes];0.95[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129231800-129237000	Enhancers	Osteobl	bone
2	chr7:129232600-129246000	Weak transcription	HMEC	breast
3	chr7:129232600-129246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:129233400-129246600	Weak transcription	NHEK	skin
5	chr7:129233400-129247400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:129233600-129246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:129233800-129246400	Weak transcription	Placenta	Placenta
8	chr7:129234000-129237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:129234200-129237000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:129234200-129237000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:129234200-129237200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:129235200-129249000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:129235200-129249800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:129235200-129250200	Weak transcription	Right Atrium	heart
15	chr7:129235400-129245800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:129236000-129245800	Weak transcription	A549	lung
17	chr7:129236000-129249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:129236400-129237000	Enhancers	HSMM	muscle

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