Variant report

Variant	rs1249340
Chromosome Location	chr10:28628252-28628253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1148177	0.89[ASN][1000 genomes]
rs1148178	0.89[ASN][1000 genomes]
rs1148179	0.89[ASN][1000 genomes]
rs1148180	0.89[ASN][1000 genomes]
rs1148181	0.89[ASN][1000 genomes]
rs1148182	0.86[ASN][1000 genomes]
rs1148183	0.81[ASN][1000 genomes]
rs1148185	0.89[ASN][1000 genomes]
rs1148186	0.89[ASN][1000 genomes]
rs1148187	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1148189	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12098315	0.89[ASN][1000 genomes]
rs12098807	0.89[ASN][1000 genomes]
rs1249344	0.82[AFR][1000 genomes]
rs1249347	0.89[ASN][1000 genomes]
rs1249348	0.89[ASN][1000 genomes]
rs1273097	0.89[ASN][1000 genomes]
rs1379320	0.93[ASN][1000 genomes]
rs2447629	0.89[ASN][1000 genomes]
rs2995539	0.93[ASN][1000 genomes]
rs34827546	0.89[ASN][1000 genomes]
rs703024	0.80[AFR][1000 genomes]
rs72803699	0.85[ASN][1000 genomes]
rs72805609	0.86[ASN][1000 genomes]
rs72805627	0.89[ASN][1000 genomes]
rs72805630	0.96[ASN][1000 genomes]
rs72805631	1.00[ASN][1000 genomes]
rs811496	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs813081	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1044938	chr10:28601993-28659440	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28626400-28631600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr10:28626400-28631800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr10:28626800-28628400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:28627600-28628400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr10:28627600-28628800	Enhancers	Primary T cells from cord blood	blood
6	chr10:28628000-28628400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr10:28628000-28628400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr10:28628000-28628600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr10:28628000-28628800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr10:28628000-28628800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr10:28628200-28628600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:28628200-28628600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr10:28628200-28629000	Enhancers	HepG2	liver
14	chr10:28628200-28630000	Enhancers	Placenta	Placenta

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