Variant report

Variant	rs1113485
Chromosome Location	chr7:150160289-150160290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11769211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770221	1.00[YRI][hapmap]
rs1608627	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2140595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2373748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2373749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800784	1.00[YRI][hapmap]
rs4146035	0.82[GIH][hapmap]
rs4725336	1.00[YRI][hapmap]
rs56693569	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58111571	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59777480	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60114833	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61342202	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464067	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6947973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6969414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73155823	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73155829	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs998920	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1113485	ZNF425	cis	cerebellum	SCAN
rs1113485	GIMAP8	cis	Adipose Subcutaneous	GTEx
rs1113485	DPP6	cis	parietal	SCAN
rs1113485	GIMAP8	cis	Muscle Skeletal	GTEx
rs1113485	GIMAP8	cis	Skin Sun Exposed Lower leg	GTEx
rs1113485	GIMAP8	Cis_1M	lymphoblastoid	RTeQTL
rs1113485	GIMAP4	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150151200-150162000	Weak transcription	Right Ventricle	heart
2	chr7:150151400-150162000	Weak transcription	HUVEC	blood vessel
3	chr7:150154200-150162400	Weak transcription	Fetal Thymus	thymus
4	chr7:150155000-150160800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:150156200-150160400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
6	chr7:150156200-150163000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150156400-150160600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr7:150156600-150161000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
9	chr7:150157000-150162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:150157400-150160800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr7:150157600-150160800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:150158000-150168000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:150158200-150163800	Weak transcription	Left Ventricle	heart
14	chr7:150158400-150174200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:150159400-150160400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:150159400-150161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:150159600-150160600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:150159800-150160400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:150160000-150160400	Active TSS	Primary T cells from cord blood	blood
20	chr7:150160000-150162000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:150160000-150163800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:150160200-150160400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:150160200-150160600	Weak transcription	Primary T cells fromperipheralblood	blood

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