Variant report

Variant	rs12549000
Chromosome Location	chr8:118881908-118881909
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10107685	0.82[CEU][hapmap]
rs11993275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541851	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs12542013	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs12543508	0.80[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12544064	0.82[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12548703	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12549700	0.91[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13263609	0.91[CEU][hapmap]
rs13265834	0.90[CEU][hapmap]
rs17430533	0.80[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17450765	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17450772	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17450793	0.82[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3923167	0.80[CEU][hapmap]
rs4256623	0.82[CEU][hapmap]
rs4339678	0.91[CEU][hapmap]
rs4345585	0.82[CEU][hapmap]
rs4515578	0.82[CEU][hapmap]
rs6981280	0.80[CEU][hapmap]
rs6991164	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7007139	0.90[CEU][hapmap]
rs72673947	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7823796	0.82[CHB][hapmap]
rs7842361	0.82[CEU][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
2	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:118875600-118888000	Weak transcription	Hela-S3	cervix
5	chr8:118876200-118883800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:118876200-118884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:118876200-118889200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
9	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
10	chr8:118876400-118888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:118876400-118889400	Weak transcription	Left Ventricle	heart
12	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:118877400-118882600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:118877800-118896200	Weak transcription	HepG2	liver
15	chr8:118878000-118883800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:118880000-118884200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:118880400-118883800	Weak transcription	HSMM	muscle
18	chr8:118880400-118884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:118880600-118883600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:118880600-118883600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:118880600-118887800	Weak transcription	Ovary	ovary
22	chr8:118880600-118889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:118880600-118889800	Weak transcription	A549	lung
24	chr8:118880800-118883400	Weak transcription	NHEK	skin
25	chr8:118881200-118883400	Weak transcription	NH-A	brain
26	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:118881400-118882600	Weak transcription	NHDF-Ad	bronchial
28	chr8:118881400-118883000	Enhancers	Osteobl	bone
29	chr8:118881400-118883800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:118881400-118893800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:118881400-118904600	Weak transcription	Lung	lung
32	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
33	chr8:118881600-118883000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:118881600-118883800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:118881600-118883800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:118881600-118883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:118881600-118885400	Weak transcription	Aorta	Aorta
38	chr8:118881600-118892400	Weak transcription	HMEC	breast
39	chr8:118881800-118882200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:118881800-118883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:118881800-118883200	Enhancers	NHLF	lung
42	chr8:118881800-118883400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:118881800-118895400	Weak transcription	Liver	Liver
44	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart

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