Variant report

Variant	rs10435613
Chromosome Location	chr8:67297968-67297969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10093516	0.89[ASN][1000 genomes]
rs10435614	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957373	0.88[ASN][1000 genomes]
rs11784121	0.95[ASN][1000 genomes]
rs12265	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs12541243	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12547055	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs12674507	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675850	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs13259712	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13263790	0.85[EUR][1000 genomes]
rs13274386	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13278628	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13282925	0.95[ASN][1000 genomes]
rs16932908	0.82[CEU][hapmap]
rs2555580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28532882	0.90[ASN][1000 genomes]
rs34469344	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34556813	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35150383	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35403851	1.00[EUR][1000 genomes]
rs35502468	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35769205	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35929661	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3739336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3824263	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs6472275	0.95[ASN][1000 genomes]
rs6651308	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs66815352	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991180	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8180970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643398	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs9643582	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.88[TSI][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10435613	ADHFE1	cis	multi-tissue	Pritchard

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67291000-67304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67293000-67298400	Enhancers	Fetal Heart	heart
3	chr8:67293000-67300200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:67295800-67299000	Weak transcription	Placenta	Placenta
5	chr8:67295800-67299600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:67295800-67300200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:67295800-67301000	Weak transcription	Right Atrium	heart
8	chr8:67296600-67298000	Enhancers	Brain Germinal Matrix	brain
9	chr8:67296600-67298200	Enhancers	Primary T cells from cord blood	blood
10	chr8:67296600-67298200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:67296800-67298400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:67297000-67298200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:67297000-67298200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr8:67297000-67298400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:67297000-67299000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:67297200-67298200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:67297200-67298200	Flanking Active TSS	GM12878-XiMat	blood
18	chr8:67297200-67298400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:67297400-67298200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:67297400-67298200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:67297400-67298200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr8:67297800-67298200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:67297800-67298200	Enhancers	Dnd41	blood

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