Variant report

Variant	rs8100675
Chromosome Location	chr19:40044635-40044636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10403625	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403763	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10415807	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10418049	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap]
rs1433109	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs16973498	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010106	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2082483	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28596775	0.93[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs28612323	0.93[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs57386718	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57484954	0.86[EUR][1000 genomes]
rs57713278	0.86[EUR][1000 genomes]
rs58916238	0.86[EUR][1000 genomes]
rs61288778	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248055	0.86[EUR][1000 genomes]
rs72480723	0.86[EUR][1000 genomes]
rs72480724	0.81[EUR][1000 genomes]
rs7251429	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs7255034	0.86[EUR][1000 genomes]
rs7260569	0.83[EUR][1000 genomes]
rs73930747	0.86[EUR][1000 genomes]
rs8101913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8108805	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8100675	EID2B	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40031200-40049600	Weak transcription	Right Atrium	heart
2	chr19:40038600-40048000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:40041200-40048200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:40042200-40047200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:40043000-40045600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr19:40043000-40048200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:40043200-40048000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:40043600-40048200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:40044000-40048200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:40044200-40046400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:40044200-40048400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:40044200-40049600	Weak transcription	Spleen	Spleen
13	chr19:40044400-40046000	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links