Variant report

Variant	rs697968
Chromosome Location	chr7:65535033-65535034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65534296..65537284-chr7:65539336..65540877,2	K562	blood:

Variant related genes	Relation type
ENSG00000126522	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10256544	0.89[CEU][hapmap]
rs10282433	0.89[CEU][hapmap]
rs1144894	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1144895	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1167390	0.89[CEU][hapmap]
rs1167395	0.87[AMR][1000 genomes]
rs1167406	0.89[CEU][hapmap]
rs1167411	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167612	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1182882	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1183245	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11971949	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11974219	0.82[AMR][1000 genomes]
rs11974264	0.83[AMR][1000 genomes]
rs12537823	0.89[CEU][hapmap]
rs13240492	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13247295	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1540651	0.81[AMR][1000 genomes]
rs160635	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1875057	0.88[CEU][hapmap]
rs1983372	0.92[CEU][hapmap]
rs2087647	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2220626	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249458	0.85[CEU][hapmap]
rs2420168	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2949696	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs313804	0.81[EUR][1000 genomes]
rs427557	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs427575	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs432667	0.82[EUR][1000 genomes]
rs448725	0.82[EUR][1000 genomes]
rs4718330	0.89[CEU][hapmap]
rs55962648	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs587360	0.89[CEU][hapmap]
rs6460282	0.89[CEU][hapmap]
rs6944374	0.85[CEU][hapmap]
rs6945843	1.00[CEU][hapmap]
rs6946143	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6951503	0.85[CEU][hapmap]
rs6952182	0.89[CEU][hapmap]
rs6957690	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6958484	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6960446	0.89[CEU][hapmap]
rs6961717	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6963646	1.00[CEU][hapmap]
rs6964437	0.89[CEU][hapmap]
rs6971509	1.00[CEU][hapmap]
rs6974614	0.89[CEU][hapmap]
rs697969	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs697970	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs709609	0.89[CEU][hapmap]
rs7801282	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs780742	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs780743	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs780744	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs780998	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs809080	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs875971	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs880166	0.89[CEU][hapmap]
rs908915	0.89[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	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	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	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
5	nsv984546	chr7:65531382-65556631	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs697968	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs697968	GS1-124K5.4	cis	Stomach	GTEx
rs697968	RP4-756H11.3	cis	Artery Tibial	GTEx
rs697968	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs697968	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs697968	RNU6-96P	cis	Thyroid	GTEx
rs697968	GS1-124K5.11	cis	Thyroid	GTEx
rs697968	RP4-756H11.3	cis	Artery Aorta	GTEx
rs697968	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs697968	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs697968	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs697968	GS1-124K5.4	cis	Artery Aorta	GTEx
rs697968	GS1-124K5.4	cis	Whole Blood	GTEx
rs697968	RP4-756H11.3	cis	Thyroid	GTEx
rs697968	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs697968	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs697968	RP4-756H11.3	cis	lung	GTEx
rs697968	GTF2IRD1P1	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65531200-65537600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:65534600-65535800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:65534800-65535600	Enhancers	NHDF-Ad	bronchial
4	chr7:65534800-65540400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:65535000-65535400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:65535000-65535600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:65535000-65535600	Enhancers	NHEK	skin
8	chr7:65535000-65535800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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