Variant report

Variant	rs494324
Chromosome Location	chr7:112532638-112532639
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10237980	0.81[ASN][1000 genomes]
rs10249952	1.00[CHB][hapmap]
rs10273589	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10275208	1.00[CHB][hapmap]
rs1227163	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1227171	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1227174	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1227181	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1227190	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1238698	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12535487	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12539085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1530756	1.00[CHB][hapmap]
rs1533851	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1547554	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17160078	1.00[CHB][hapmap]
rs1718944	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1718948	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718961	0.87[EUR][1000 genomes]
rs1718967	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1796492	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1796493	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1796512	0.85[EUR][1000 genomes]
rs1796516	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1996843	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2396573	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2396574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2457	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2687267	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2708295	0.85[EUR][1000 genomes]
rs2708296	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3997335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3997336	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs548994	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs549688	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs552304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564494	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565641	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58858661	0.92[EUR][1000 genomes]
rs62472532	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466421	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs660743	0.95[CEU][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap]
rs672911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944843	1.00[CHB][hapmap]
rs6948575	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6953522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967716	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs726593	0.82[JPT][hapmap]
rs7777973	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7781871	1.00[CHB][hapmap]
rs7785774	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7803405	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7806781	0.82[CHB][hapmap]
rs7808616	1.00[CHB][hapmap]
rs821782	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs821783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs821785	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs821787	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112470800-112533200	Weak transcription	HSMM	muscle
3	chr7:112471800-112545200	Weak transcription	Ovary	ovary
4	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:112496200-112533400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:112506800-112533000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:112512800-112533400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:112513800-112533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:112515200-112534000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:112515400-112533000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:112515400-112533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:112515400-112551000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:112516000-112533000	Weak transcription	Fetal Kidney	kidney
16	chr7:112516000-112533200	Weak transcription	Fetal Brain Male	brain
17	chr7:112516000-112537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:112516400-112551000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:112518000-112533000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:112518000-112533400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:112518000-112534200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:112518800-112533000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:112519000-112532800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:112519000-112557400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:112519400-112533400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:112520200-112533200	Weak transcription	Osteobl	bone
27	chr7:112521400-112533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:112521400-112534600	Weak transcription	Esophagus	oesophagus
29	chr7:112521600-112533000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:112521600-112535600	Weak transcription	HSMMtube	muscle
31	chr7:112522200-112533200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:112522200-112571000	Weak transcription	Thymus	Thymus
33	chr7:112522400-112532800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:112522400-112533200	Weak transcription	Pancreas	Pancrea
35	chr7:112522400-112534400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:112522400-112551000	Weak transcription	Spleen	Spleen
37	chr7:112522400-112558400	Weak transcription	Gastric	stomach
38	chr7:112522400-112558800	Weak transcription	Lung	lung
39	chr7:112522800-112533200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:112523800-112533200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:112524200-112539400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:112524200-112550800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:112524200-112556800	Weak transcription	Colonic Mucosa	Colon
44	chr7:112524800-112533000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:112524800-112538600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:112525000-112536800	Weak transcription	HMEC	breast
47	chr7:112525800-112532800	Weak transcription	Fetal Brain Female	brain
48	chr7:112525800-112533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:112526800-112533400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:112527000-112533400	Weak transcription	GM12878-XiMat	blood

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