Variant report

Variant	rs2692449
Chromosome Location	chr7:129612086-129612087
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	chr7:129557764..129560612-chr7:129608880..129612426,3	K562	blood:
2	chr7:129610210..129612091-chr7:129616176..129618728,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1045897	0.81[ASN][1000 genomes]
rs1965542	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2140874	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2692445	0.87[ASN][1000 genomes]
rs2692446	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692447	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708638	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2708639	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708643	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2708644	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727509	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34438031	0.87[ASN][1000 genomes]
rs34463221	0.87[ASN][1000 genomes]
rs34629832	0.87[ASN][1000 genomes]
rs35182759	0.87[ASN][1000 genomes]
rs35793528	0.87[ASN][1000 genomes]
rs6955829	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73473720	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129598800-129629600	Weak transcription	Right Atrium	heart
2	chr7:129611000-129612400	Weak transcription	NH-A	brain
3	chr7:129611000-129613400	Weak transcription	Hela-S3	cervix
4	chr7:129611000-129613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:129611000-129613600	Weak transcription	A549	lung
6	chr7:129611000-129613800	Weak transcription	HepG2	liver
7	chr7:129611000-129614000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:129611000-129616600	Weak transcription	Placenta	Placenta
9	chr7:129611200-129613600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:129611200-129614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:129611400-129613200	Weak transcription	Esophagus	oesophagus
12	chr7:129611400-129613800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:129611400-129614000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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