Variant report

Variant	rs17152496
Chromosome Location	chr7:79062974-79062975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1100309	0.84[JPT][hapmap]
rs17152454	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17152499	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152506	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17152525	0.82[JPT][hapmap]
rs17424004	0.83[LWK][hapmap]
rs2069132	0.83[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs2107992	0.93[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs2158707	0.93[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap]
rs2364912	0.81[ASN][1000 genomes]
rs3884514	0.92[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap]
rs55965206	0.92[ASN][1000 genomes]
rs56191332	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57763664	0.81[ASN][1000 genomes]
rs59169073	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61046785	0.81[ASN][1000 genomes]
rs66627069	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67627178	0.84[ASN][1000 genomes]
rs67945427	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68016561	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68156712	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6953105	0.93[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap]
rs6956190	0.83[JPT][hapmap]
rs73147403	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73147408	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73147474	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73147479	0.93[ASN][1000 genomes]
rs7456505	0.80[ASN][1000 genomes]
rs7797165	0.89[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap]
rs848909	0.80[CHB][hapmap]
rs848915	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs848958	0.84[JPT][hapmap]
rs860246	0.84[JPT][hapmap]
rs9640776	0.93[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap]
rs9641583	0.93[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs9641588	0.93[CHB][hapmap];0.84[JPT][hapmap];0.95[YRI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9641589	0.85[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs980354	0.83[GIH][hapmap]
rs991857	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv607665	chr7:79027730-79063644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv607666	chr7:79029872-79063644	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv607667	chr7:79029872-79065268	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv607668	chr7:79029872-79070452	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv427792	chr7:79039802-79253373	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv970902	chr7:79046674-79175610	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17152496	RHBDD2	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79057600-79067400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:79060400-79063200	Weak transcription	NHDF-Ad	bronchial
3	chr7:79061200-79063000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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