Variant report

Variant	rs11762737
Chromosome Location	chr7:112538378-112538379
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	chr7:112186789..112189212-chr7:112536212..112538987,2	K562	blood:
2	chr7:112509021..112509888-chr7:112538291..112539352,5	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10238492	0.91[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs10243834	1.00[ASN][1000 genomes]
rs10249952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10272143	1.00[ASN][1000 genomes]
rs10273589	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs10275208	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10280618	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10280825	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1044262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10500014	0.82[ASN][1000 genomes]
rs11768408	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11768787	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769037	0.93[EUR][1000 genomes]
rs1227163	0.92[CEU][hapmap]
rs12539085	0.83[CHD][hapmap]
rs1530756	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17160078	0.83[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17405723	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1976897	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1992988	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.93[ASN][1000 genomes]
rs2396570	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2396574	0.83[CHD][hapmap]
rs2396583	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35983930	0.82[ASN][1000 genomes]
rs3957315	0.91[CEU][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3997335	1.00[CHB][hapmap]
rs552304	0.83[CHD][hapmap]
rs56012709	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62472534	0.89[ASN][1000 genomes]
rs62472536	0.96[ASN][1000 genomes]
rs62491096	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62491097	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62491099	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6466423	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs685259	0.83[CHD][hapmap]
rs6944843	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs6953522	0.83[CHD][hapmap]
rs73196926	0.82[ASN][1000 genomes]
rs7781871	0.85[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7806781	1.00[JPT][hapmap];0.81[TSI][hapmap]
rs7808616	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs821787	0.83[CHD][hapmap]
rs9969347	0.83[CHD][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11762737	CAV2	cis	parietal	SCAN
rs11762737	C7orf53	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112471800-112545200	Weak transcription	Ovary	ovary
3	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:112515400-112551000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:112516400-112551000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:112519000-112557400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:112522200-112571000	Weak transcription	Thymus	Thymus
8	chr7:112522400-112551000	Weak transcription	Spleen	Spleen
9	chr7:112522400-112558400	Weak transcription	Gastric	stomach
10	chr7:112522400-112558800	Weak transcription	Lung	lung
11	chr7:112524200-112539400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:112524200-112550800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:112524200-112556800	Weak transcription	Colonic Mucosa	Colon
14	chr7:112524800-112538600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:112527200-112546600	Weak transcription	Psoas Muscle	Psoas
16	chr7:112529600-112538600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:112529800-112550800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:112530000-112539000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:112530200-112538600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:112530200-112545600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:112530200-112547000	Weak transcription	Small Intestine	intestine
22	chr7:112530200-112551000	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:112530400-112538400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:112530400-112538400	Weak transcription	Liver	Liver
25	chr7:112530400-112538600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:112530400-112539800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:112530400-112541200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:112530400-112576600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:112531200-112538600	Weak transcription	Stomach Mucosa	stomach
30	chr7:112532400-112550800	Weak transcription	NHDF-Ad	bronchial
31	chr7:112533400-112541200	Weak transcription	NH-A	brain
32	chr7:112533600-112541200	Weak transcription	Brain Germinal Matrix	brain
33	chr7:112533600-112545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:112533800-112538400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:112533800-112545000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:112534000-112540000	Weak transcription	GM12878-XiMat	blood
37	chr7:112534200-112551000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:112534400-112541000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:112534400-112551000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:112534600-112539600	Weak transcription	Fetal Brain Female	brain
41	chr7:112534600-112545000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:112534600-112545400	Weak transcription	Primary T cells from cord blood	blood
43	chr7:112534600-112551000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:112534800-112538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:112534800-112539800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:112534800-112545000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:112534800-112548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:112534800-112551000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:112534800-112551400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:112534800-112553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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