Variant report

Variant	rs12332461
Chromosome Location	chr5:112871658-112871659
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10035293	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10035297	1.00[ASN][1000 genomes]
rs10038504	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10042141	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10043783	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10043834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10052747	0.86[AMR][1000 genomes]
rs10053052	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10053157	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10053622	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10055327	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10057000	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10057264	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10066163	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10070825	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10075927	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10078576	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10155616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10440762	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10477492	0.82[AMR][1000 genomes]
rs10477493	0.86[AMR][1000 genomes]
rs10477494	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10478123	0.82[AMR][1000 genomes]
rs10478124	0.82[AMR][1000 genomes]
rs11950116	0.92[ASN][1000 genomes]
rs11950577	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11952758	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11960559	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12652864	0.81[CHB][hapmap]
rs12656898	0.87[ASN][1000 genomes]
rs12659593	0.83[ASN][1000 genomes]
rs13354840	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13356509	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13436247	0.86[AFR][1000 genomes]
rs1582487	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs17135618	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1816063	0.87[ASN][1000 genomes]
rs2303718	1.00[CHB][hapmap]
rs28566618	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28714108	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28793421	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs36009332	1.00[ASN][1000 genomes]
rs36015377	1.00[ASN][1000 genomes]
rs3842916	1.00[JPT][hapmap]
rs3843501	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3857436	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs41459745	1.00[JPT][hapmap]
rs4345310	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56090613	0.83[ASN][1000 genomes]
rs6866028	0.98[ASN][1000 genomes]
rs6879177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6879370	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7705430	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7709550	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7709818	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7715884	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7719254	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7722421	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7731451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7735806	0.82[AMR][1000 genomes]
rs9654506	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[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	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv882722	chr5:112868878-112899573	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112879000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:112850400-112879200	Weak transcription	Gastric	stomach
3	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
4	chr5:112850600-112874800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:112850600-112879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
7	chr5:112851400-112879000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
9	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:112852400-112878800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
13	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:112857000-112877600	Weak transcription	HepG2	liver
15	chr5:112858800-112876000	Weak transcription	Brain Anterior Caudate	brain
16	chr5:112858800-112882000	Weak transcription	Brain Substantia Nigra	brain
17	chr5:112858800-112882200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:112860400-112879000	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:112860400-112882200	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:112864200-112882200	Weak transcription	Stomach Mucosa	stomach
22	chr5:112866000-112878000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:112867000-112882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:112867000-112888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
26	chr5:112867200-112871800	Strong transcription	HSMM	muscle
27	chr5:112867200-112873600	Weak transcription	K562	blood
28	chr5:112867200-112878800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:112867200-112880600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112867200-112882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
32	chr5:112867200-112904000	Weak transcription	Lung	lung
33	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
34	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
37	chr5:112867400-112871800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:112867400-112871800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr5:112867400-112873600	Weak transcription	Left Ventricle	heart
40	chr5:112867400-112875000	Weak transcription	Brain Germinal Matrix	brain
41	chr5:112867400-112878800	Weak transcription	Thymus	Thymus
42	chr5:112867400-112879000	Weak transcription	NHLF	lung
43	chr5:112867400-112879200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:112867400-112879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:112867400-112882200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:112867400-112888000	Weak transcription	HSMMtube	muscle
47	chr5:112867400-112888800	Weak transcription	Ovary	ovary
48	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
49	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:112867600-112882600	Weak transcription	Fetal Brain Female	brain

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