Variant report

Variant	rs12549700
Chromosome Location	chr8:118899369-118899370
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10107685	0.90[CEU][hapmap]
rs11993275	0.90[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541851	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs12542013	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs12543508	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544064	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12548703	0.82[CHB][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549000	0.91[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13263609	1.00[CEU][hapmap]
rs13265834	1.00[CEU][hapmap]
rs17430533	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450765	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17450772	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17450793	0.90[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504211	0.82[CHB][hapmap]
rs3923167	0.89[CEU][hapmap]
rs4256623	0.90[CEU][hapmap]
rs4339678	1.00[CEU][hapmap]
rs4345585	0.90[CEU][hapmap]
rs4515578	0.90[CEU][hapmap]
rs6981280	0.89[CEU][hapmap]
rs6991164	0.81[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007139	1.00[CEU][hapmap]
rs72673947	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823796	1.00[CHB][hapmap]
rs7842361	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
2	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:118881400-118904600	Weak transcription	Lung	lung
4	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
5	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
7	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
9	chr8:118894200-118901200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:118894200-118901200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:118894200-118904400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:118894600-118905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:118894800-118900600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:118894800-118904200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:118894800-118904400	Weak transcription	NH-A	brain
17	chr8:118894800-118905200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:118894800-118905600	Weak transcription	HMEC	breast
19	chr8:118895400-118899400	Enhancers	Liver	Liver
20	chr8:118895600-118900800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:118896000-118901000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:118896200-118900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:118896200-118904400	Weak transcription	NHDF-Ad	bronchial
24	chr8:118896400-118901200	Weak transcription	HSMM	muscle
25	chr8:118896600-118900800	Weak transcription	Fetal Heart	heart
26	chr8:118896600-118902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:118896600-118903000	Weak transcription	NHEK	skin
28	chr8:118896800-118901200	Weak transcription	Fetal Lung	lung
29	chr8:118896800-118902600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:118896800-118904400	Weak transcription	Pancreas	Pancrea
31	chr8:118896800-118905400	Weak transcription	Stomach Mucosa	stomach
32	chr8:118896800-118909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:118897200-118900600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:118897200-118900800	Weak transcription	Aorta	Aorta
35	chr8:118897200-118903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:118897400-118903800	Weak transcription	NHLF	lung
37	chr8:118897600-118908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:118897800-118899400	Enhancers	HepG2	liver
39	chr8:118898800-118900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:118898800-118901200	Weak transcription	Fetal Intestine Small	intestine
41	chr8:118899000-118902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:118899000-118902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:118899000-118907000	Weak transcription	HUVEC	blood vessel
44	chr8:118899200-118899600	Enhancers	A549	lung
45	chr8:118899200-118901200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:118899200-118901400	Weak transcription	Osteobl	bone

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