Variant report

Variant	rs1649908
Chromosome Location	chr2:231412317-231412318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1102957	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1104327	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13000851	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1649876	0.95[EUR][1000 genomes]
rs1649902	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1649905	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1649906	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1649907	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1649909	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1649910	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1649921	0.94[EUR][1000 genomes]
rs1649925	0.95[EUR][1000 genomes]
rs1678151	0.95[EUR][1000 genomes]
rs1678187	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678189	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1678190	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678199	0.92[EUR][1000 genomes]
rs1678205	0.93[EUR][1000 genomes]
rs1678210	0.94[EUR][1000 genomes]
rs1678211	0.95[EUR][1000 genomes]
rs2195196	0.98[EUR][1000 genomes]
rs2434050	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33078	0.95[EUR][1000 genomes]
rs33079	0.95[EUR][1000 genomes]
rs4973324	0.91[EUR][1000 genomes]
rs4973325	0.95[EUR][1000 genomes]
rs62195461	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6436942	0.84[EUR][1000 genomes]
rs6436944	0.95[EUR][1000 genomes]
rs6436945	0.95[EUR][1000 genomes]
rs6717269	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6724975	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6740016	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs699660	0.96[EUR][1000 genomes]
rs699661	0.96[EUR][1000 genomes]
rs836232	0.92[EUR][1000 genomes]
rs836236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs836237	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs836238	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs836239	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs890668	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875949	chr2:231407663-231434272	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231401000-231430200	Weak transcription	Pancreas	Pancrea
2	chr2:231404000-231417200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:231404600-231416400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:231405800-231415000	Weak transcription	Gastric	stomach
5	chr2:231407000-231417200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:231407200-231417200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:231408000-231415000	Weak transcription	GM12878-XiMat	blood
8	chr2:231408600-231414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:231408800-231413400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:231408800-231414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:231408800-231417000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:231408800-231417200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:231408800-231417200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:231409000-231413400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:231409400-231417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:231409800-231417200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:231410200-231417000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:231410200-231428800	Weak transcription	Primary B cells from cord blood	blood

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