Variant report

Variant	rs17155637
Chromosome Location	chr7:108025766-108025767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10245718	0.86[CEU][hapmap]
rs11971972	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11973105	0.82[EUR][1000 genomes]
rs11973823	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983900	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12669879	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705470	0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs13222628	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227836	0.80[ASW][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13228190	0.83[EUR][1000 genomes]
rs13238841	0.94[GIH][hapmap];0.88[MEX][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs13245101	0.82[EUR][1000 genomes]
rs13245242	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17338441	0.82[EUR][1000 genomes]
rs17338462	0.88[GIH][hapmap];0.88[MEX][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs17421351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17423043	0.88[GIH][hapmap];0.88[MEX][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs17423119	0.88[GIH][hapmap];0.88[MEX][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs2108252	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2108253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2214913	0.82[EUR][1000 genomes]
rs2300036	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2300040	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300048	0.80[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2300052	0.88[GIH][hapmap];0.88[MEX][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs2395995	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34218460	0.81[EUR][1000 genomes]
rs35429156	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35436957	0.83[EUR][1000 genomes]
rs35617326	0.82[EUR][1000 genomes]
rs56145857	0.81[EUR][1000 genomes]
rs59458537	0.82[EUR][1000 genomes]
rs60398019	0.81[EUR][1000 genomes]
rs6466224	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466225	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466233	1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs66461825	0.82[EUR][1000 genomes]
rs67027479	0.82[EUR][1000 genomes]
rs6949637	0.82[EUR][1000 genomes]
rs6954366	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959023	0.81[EUR][1000 genomes]
rs6959409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6960478	0.80[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966107	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967368	0.83[GIH][hapmap]
rs6969521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6976309	0.82[EUR][1000 genomes]
rs6976649	0.81[EUR][1000 genomes]
rs6976659	0.82[EUR][1000 genomes]
rs6976752	0.82[EUR][1000 genomes]
rs6976776	0.82[EUR][1000 genomes]
rs6976804	0.82[EUR][1000 genomes]
rs6978552	0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs71213282	0.82[EUR][1000 genomes]
rs7784170	0.83[EUR][1000 genomes]
rs7786947	0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs7790875	0.94[GIH][hapmap];0.88[MEX][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs7792321	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs7797885	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806869	1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs7807737	0.82[EUR][1000 genomes]
rs7807941	0.82[EUR][1000 genomes]
rs9649307	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17155637	THAP5	cis	normal skin	skin_eQTL
rs17155637	THAP5	Cis_1M	lymphoblastoid	RTeQTL
rs17155637	PUS7	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108014800-108043200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:108020000-108034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:108021400-108040800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:108021400-108043000	Weak transcription	HMEC	breast
5	chr7:108021800-108026600	Weak transcription	HUVEC	blood vessel
6	chr7:108022400-108034200	Weak transcription	Pancreas	Pancrea
7	chr7:108024000-108033000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:108024000-108045600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:108024200-108036000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:108024400-108034000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:108024400-108036000	Weak transcription	Brain Angular Gyrus	brain
12	chr7:108025200-108025800	Enhancers	Fetal Kidney	kidney
13	chr7:108025200-108026000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:108025400-108027600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:108025600-108034200	Weak transcription	A549	lung

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