Variant report

Variant	rs7617666
Chromosome Location	chr3:158039012-158039013
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158037308..158039450-chr3:158039915..158041897,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1070894	0.85[ASN][1000 genomes]
rs10936131	0.82[MEX][hapmap]
rs10936139	0.81[CEU][hapmap]
rs1095629	0.86[ASN][1000 genomes]
rs1095630	0.83[ASN][1000 genomes]
rs1095633	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1095634	0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs11706229	0.84[JPT][hapmap]
rs11707386	0.80[CEU][hapmap];0.82[MEX][hapmap]
rs11707696	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11716327	0.82[MEX][hapmap]
rs11717618	0.81[CEU][hapmap]
rs11719153	0.81[CEU][hapmap]
rs11719388	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1210358	0.99[ASN][1000 genomes]
rs12496934	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs12636733	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs13060100	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs13072413	0.81[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap]
rs13086348	0.85[JPT][hapmap]
rs1581412	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs1589526	0.81[CEU][hapmap];0.87[CHD][hapmap]
rs1608968	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1610269	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs1624094	0.88[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs1724676	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1724677	0.88[ASN][1000 genomes]
rs1724727	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs1724728	0.94[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs1724729	0.94[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs1729997	0.88[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap]
rs1729999	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs1730054	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs17683939	0.81[CEU][hapmap]
rs1851062	0.81[CEU][hapmap]
rs2693528	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2693541	0.96[ASN][1000 genomes]
rs4271876	0.85[JPT][hapmap]
rs4318510	0.85[CEU][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]
rs4402974	0.82[MEX][hapmap]
rs4558712	0.85[JPT][hapmap]
rs4679821	0.85[JPT][hapmap]
rs4680421	0.81[CEU][hapmap]
rs4680435	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs57361244	0.87[ASN][1000 genomes]
rs6768496	0.89[JPT][hapmap];0.92[YRI][hapmap]
rs6777853	0.87[CHD][hapmap];0.85[JPT][hapmap]
rs6784968	0.82[MEX][hapmap]
rs6802443	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs698986	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs698988	0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs698990	0.88[ASN][1000 genomes]
rs698991	0.93[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs699916	0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs699917	0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs699919	0.83[ASN][1000 genomes]
rs699922	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs73168795	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7614091	0.87[ASN][1000 genomes]
rs7621889	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7623107	0.89[JPT][hapmap]
rs7624303	0.81[CEU][hapmap]
rs7642751	0.81[CEU][hapmap]
rs7645383	0.94[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs7645475	0.80[JPT][hapmap]
rs827090	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs827091	0.88[ASN][1000 genomes]
rs827118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs827120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs827122	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs827123	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs827125	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs827136	0.95[ASN][1000 genomes]
rs827143	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs827150	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs827156	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs827161	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs827172	0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs827175	0.82[ASN][1000 genomes]
rs827187	0.97[ASN][1000 genomes]
rs827188	0.97[ASN][1000 genomes]
rs827806	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs852110	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs9811346	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs9814827	0.88[ASN][1000 genomes]
rs9840667	0.87[CHD][hapmap];0.85[JPT][hapmap]
rs9845388	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9848977	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs9852745	0.81[CEU][hapmap];0.85[JPT][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	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916910	chr3:157926799-158183372	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7617666	TIPARP	cis	parietal	SCAN
rs7617666	RP11-538P18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7617666	RSRC1	Cis_1M	lymphoblastoid	RTeQTL
rs7617666	RP11-538P18.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157986400-158040000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:157993400-158054600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:157993800-158040600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:158019200-158041600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:158035600-158047400	Weak transcription	Left Ventricle	heart

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