Variant report

Variant	rs1565531
Chromosome Location	chr7:65663113-65663114
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65662738..65664667-chr7:65666505..65668854,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1000464	0.86[CEU][hapmap]
rs1002053	0.92[CEU][hapmap];0.95[YRI][hapmap];0.91[EUR][1000 genomes]
rs10215948	0.96[CEU][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10224872	0.86[CEU][hapmap]
rs10228885	0.86[CEU][hapmap]
rs10253922	0.82[AMR][1000 genomes]
rs10256544	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs10257427	0.96[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10260426	0.85[CEU][hapmap]
rs10261398	0.85[CEU][hapmap]
rs10267430	0.96[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10282433	0.85[CEU][hapmap]
rs10447522	0.86[CEU][hapmap]
rs1129531	0.82[CHB][hapmap]
rs1144894	0.82[AMR][1000 genomes]
rs1144895	0.81[AMR][1000 genomes]
rs1167390	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs1167395	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1167406	0.86[CEU][hapmap]
rs1167411	0.81[AMR][1000 genomes]
rs1167612	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11760844	0.86[CEU][hapmap]
rs11765965	0.91[CEU][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs1182882	0.85[AMR][1000 genomes]
rs1183245	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs11971949	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11974219	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11974264	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11984115	0.85[CEU][hapmap]
rs12537823	0.85[CEU][hapmap]
rs13225383	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13229046	0.81[ASN][1000 genomes]
rs13240492	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13247295	0.84[AMR][1000 genomes]
rs13309935	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1540651	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1643395	0.82[EUR][1000 genomes]
rs1695815	0.91[EUR][1000 genomes]
rs1695820	0.89[CEU][hapmap]
rs1875057	0.88[CEU][hapmap]
rs1968225	0.82[EUR][1000 genomes]
rs1983372	0.89[CEU][hapmap];0.82[CHB][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs2036264	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2077593	0.81[EUR][1000 genomes]
rs2087647	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2088653	0.85[CEU][hapmap]
rs2088655	0.85[CEU][hapmap]
rs2173570	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2220626	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs2249458	0.82[CEU][hapmap]
rs2420168	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2420173	0.83[AMR][1000 genomes]
rs2420174	0.83[AMR][1000 genomes]
rs28682868	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2901152	0.85[CEU][hapmap]
rs2949696	0.88[AMR][1000 genomes]
rs35028832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3935391	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4149461	0.85[CEU][hapmap]
rs4236208	0.85[CEU][hapmap]
rs4717292	0.82[EUR][1000 genomes]
rs4718319	0.83[AMR][1000 genomes]
rs4718330	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs4718343	0.82[EUR][1000 genomes]
rs4718344	0.82[EUR][1000 genomes]
rs55748098	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55962648	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs587360	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs6460282	0.85[CEU][hapmap]
rs6460291	0.90[EUR][1000 genomes]
rs6460292	0.96[CEU][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6460293	0.85[CEU][hapmap]
rs6460295	0.82[EUR][1000 genomes]
rs6460296	0.82[EUR][1000 genomes]
rs6944374	0.82[CEU][hapmap]
rs6945843	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6946143	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6951503	0.82[CEU][hapmap]
rs6952182	0.85[CEU][hapmap]
rs6956179	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs6957690	0.90[AMR][1000 genomes]
rs6958484	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6959268	0.85[CEU][hapmap]
rs6960446	0.85[CEU][hapmap]
rs6960476	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6961717	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6961990	0.81[EUR][1000 genomes]
rs6963646	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6964437	0.85[CEU][hapmap]
rs6967708	0.83[AMR][1000 genomes]
rs6971509	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6974614	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs6977501	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6979382	0.80[EUR][1000 genomes]
rs697968	0.96[CEU][hapmap]
rs697969	0.85[AMR][1000 genomes]
rs697970	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs709595	0.96[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs709597	0.91[EUR][1000 genomes]
rs709609	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs7782704	0.86[CEU][hapmap]
rs7782806	0.83[AMR][1000 genomes]
rs7783613	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7783779	0.85[CEU][hapmap]
rs778682	0.87[EUR][1000 genomes]
rs778685	0.91[EUR][1000 genomes]
rs778689	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs778692	0.81[EUR][1000 genomes]
rs778694	0.81[EUR][1000 genomes]
rs778699	0.82[EUR][1000 genomes]
rs778700	0.82[EUR][1000 genomes]
rs778706	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs778708	0.84[EUR][1000 genomes]
rs778709	0.82[EUR][1000 genomes]
rs778710	0.84[EUR][1000 genomes]
rs778711	0.86[CEU][hapmap]
rs778712	0.84[EUR][1000 genomes]
rs778720	0.84[CEU][hapmap]
rs778721	0.85[EUR][1000 genomes]
rs778722	0.96[CEU][hapmap];0.91[YRI][hapmap]
rs778723	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs778726	0.91[EUR][1000 genomes]
rs778727	0.83[EUR][1000 genomes]
rs778734	0.89[CEU][hapmap]
rs778735	0.91[EUR][1000 genomes]
rs778736	0.85[CEU][hapmap]
rs7791891	0.87[EUR][1000 genomes]
rs7794930	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7798630	0.86[CEU][hapmap]
rs7799834	0.81[EUR][1000 genomes]
rs7801282	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7803424	0.82[EUR][1000 genomes]
rs780743	0.81[AMR][1000 genomes]
rs780744	0.81[AMR][1000 genomes]
rs780998	0.87[AMR][1000 genomes]
rs875971	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs880166	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs908915	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs937495	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs949930	0.86[CEU][hapmap]
rs9969301	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9986696	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs1565531	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs1565531	GS1-124K5.4	cis	Artery Aorta	GTEx
rs1565531	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs1565531	RP4-756H11.3	cis	lung	GTEx
rs1565531	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs1565531	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs1565531	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs1565531	RP4-756H11.3	cis	Artery Aorta	GTEx
rs1565531	GS1-124K5.11	cis	Thyroid	GTEx
rs1565531	RP4-756H11.3	cis	Thyroid	GTEx
rs1565531	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs1565531	GTF2IRD1P1	cis	Thyroid	GTEx
rs1565531	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs1565531	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1565531	RNU6-96P	cis	Thyroid	GTEx
rs1565531	GS1-124K5.4	cis	Stomach	GTEx
rs1565531	RP4-756H11.3	cis	Artery Tibial	GTEx
rs1565531	GS1-124K5.4	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65660800-65669800	Weak transcription	Spleen	Spleen
2	chr7:65661600-65663200	Weak transcription	HepG2	liver
3	chr7:65661600-65669400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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