Variant report

Variant	rs9638291
Chromosome Location	chr7:70690615-70690616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10950250	0.89[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs10950251	0.89[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs11981051	0.89[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs12537666	0.89[CEU][hapmap]
rs12538186	0.89[CEU][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap]
rs12539391	0.89[CEU][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap]
rs12540672	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12666361	0.89[CEU][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12666487	0.89[CEU][hapmap]
rs12668663	0.85[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs12672193	0.82[EUR][1000 genomes]
rs13244421	0.89[CEU][hapmap]
rs17521285	0.88[CEU][hapmap]
rs17592881	0.89[CEU][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap]
rs17593300	0.89[CEU][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap]
rs2190223	0.89[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2190224	0.89[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2867044	0.89[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs4126230	0.89[CEU][hapmap]
rs55973969	0.84[EUR][1000 genomes]
rs757841	0.89[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs7786194	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7788558	0.82[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7802241	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9638288	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs9638610	0.89[CEU][hapmap]
rs990300	0.92[CEU][hapmap]

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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1801758	chr7:70689429-70692400	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9638291	WBSCR17	cis	Heart Left Ventricle	GTEx
rs9638291	INPP1	trans	lymphoblastoid	seeQTL
rs9638291	WBSCR17	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70667000-70701400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70684200-70692400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:70685600-70691200	Weak transcription	Left Ventricle	heart
4	chr7:70686000-70692800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70686800-70692800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:70687000-70700600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:70688000-70694000	Weak transcription	Right Ventricle	heart
8	chr7:70688000-70701200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:70689200-70691600	Weak transcription	Ovary	ovary
10	chr7:70689600-70692800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:70689800-70692800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:70690400-70697200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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