Variant report

Variant	rs2299371
Chromosome Location	chr7:103358920-103358921
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103357438..103359358-chr7:103364069..103366186,2	K562	blood:
2	chr7:103302444..103304759-chr7:103358804..103361595,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10237247	0.94[ASN][1000 genomes]
rs10240733	0.93[ASN][1000 genomes]
rs10240865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10250273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10279900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10281066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17154372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17154406	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17154435	0.94[ASN][1000 genomes]
rs17154438	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs17154462	0.94[ASN][1000 genomes]
rs17154464	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs17154820	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1858782	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs2106172	1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2106173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2157748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283023	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs2299363	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299364	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299365	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299369	0.98[ASN][1000 genomes]
rs2299373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213611	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735631	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3753113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3819455	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56364137	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs580884	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs581081	0.84[ASN][1000 genomes]
rs59196529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61283906	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs645260	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs729744	0.96[ASN][1000 genomes]
rs73410860	0.87[ASN][1000 genomes]
rs7794541	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7799028	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7803243	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.93[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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103339000-103359600	Weak transcription	K562	blood
2	chr7:103351200-103359000	Weak transcription	NHDF-Ad	bronchial
3	chr7:103351400-103359600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:103355400-103374800	Weak transcription	HepG2	liver
5	chr7:103357200-103359000	Weak transcription	Brain Germinal Matrix	brain
6	chr7:103358000-103360400	Enhancers	HUVEC	blood vessel
7	chr7:103358200-103359600	Enhancers	Hela-S3	cervix
8	chr7:103358200-103360400	Enhancers	NHEK	skin
9	chr7:103358600-103359400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:103358600-103360400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:103358800-103360000	Enhancers	Muscle Satellite Cultured Cells	--

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