Variant report

Variant	rs10245497
Chromosome Location	chr7:129234356-129234357
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129229009..129231952-chr7:129233633..129235471,2	K562	blood:
2	chr7:129234351..129237534-chr7:129248958..129252708,4	K562	blood:
3	chr7:129228702..129231746-chr7:129233208..129236163,3	MCF-7	breast:
4	chr17:56734937..56737841-chr7:129232679..129235334,2	MCF-7	breast:
5	chr7:129232654..129235191-chr7:129235387..129237380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273329	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000106459	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10215964	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10226046	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249998	0.80[EUR][1000 genomes]
rs10255077	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs10275592	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10279839	0.80[EUR][1000 genomes]
rs10808238	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808240	0.88[CEU][hapmap];0.86[CHB][hapmap]
rs10954244	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954246	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1450878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562833	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1619066	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1732008	0.80[YRI][hapmap]
rs1975644	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402958	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402966	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs2402968	0.86[CHB][hapmap]
rs2402969	0.86[CHB][hapmap]
rs2402972	1.00[ASW][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[YRI][hapmap]
rs2896418	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896419	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2896422	0.86[CHB][hapmap]
rs2896423	0.86[CHB][hapmap]
rs4292630	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs4520104	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4728171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728177	0.84[CHB][hapmap];0.81[YRI][hapmap]
rs4731600	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731607	0.86[EUR][1000 genomes]
rs4731608	0.90[CEU][hapmap];1.00[YRI][hapmap]
rs4731612	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs4731621	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs602616	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467252	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467253	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467257	0.91[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap]
rs676366	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs690686	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs692489	0.85[CHB][hapmap]
rs6954452	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958958	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs6961102	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6966688	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967348	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7778085	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs7788769	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794909	1.00[YRI][hapmap]
rs7797035	0.92[EUR][1000 genomes]
rs7799885	0.86[EUR][1000 genomes]
rs7802041	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802940	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs7805465	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs896156	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690361	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9691578	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792084	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.83[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129229800-129236000	Enhancers	A549	lung
2	chr7:129231800-129237000	Enhancers	Osteobl	bone
3	chr7:129232600-129234600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:129232600-129246000	Weak transcription	HMEC	breast
5	chr7:129232600-129246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:129233000-129234400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:129233400-129246600	Weak transcription	NHEK	skin
8	chr7:129233400-129247400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:129233600-129234600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:129233600-129234600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:129233600-129246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:129233800-129246400	Weak transcription	Placenta	Placenta
13	chr7:129234000-129237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:129234200-129235200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:129234200-129237000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:129234200-129237000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:129234200-129237200	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links