Variant report

Variant	rs2114271
Chromosome Location	chr1:93876429-93876430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10443193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1081522	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10874783	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874784	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164908	0.94[CEU][hapmap]
rs11164921	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030843	0.94[CEU][hapmap]
rs12044557	0.93[CEU][hapmap]
rs12138486	0.87[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs12563120	0.93[CEU][hapmap]
rs1365297	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2114272	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35628716	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35910103	0.81[EUR][1000 genomes]
rs35915989	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4484937	0.93[CEU][hapmap]
rs4847241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847426	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61266405	0.83[EUR][1000 genomes]
rs6541349	0.93[CEU][hapmap]
rs6686095	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6691545	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687394	0.85[CEU][hapmap]
rs698927	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs771458	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs771462	0.92[EUR][1000 genomes]
rs771478	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs771481	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs812214	0.84[AMR][1000 genomes];0.90[EUR][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3375834	chr1:93872980-93904647	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93875600-93877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:93875600-93877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:93876000-93876800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:93876200-93876600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:93876200-93876600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:93876200-93877000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:93876200-93877000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:93876200-93877600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:93876400-93876800	Enhancers	Stomach Mucosa	stomach
10	chr1:93876400-93877000	Active TSS	HUES6 Cell Line	embryonic stem cell

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