Variant report

Variant	rs6472453
Chromosome Location	chr8:48377332-48377333
allele	A/G
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]
rs10107926	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs10481296	0.81[EUR][1000 genomes]
rs12216833	0.87[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs1552667	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16925570	0.95[YRI][hapmap]
rs16927307	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs55841214	0.86[EUR][1000 genomes]
rs55918561	0.83[EUR][1000 genomes]
rs56107210	0.81[EUR][1000 genomes]
rs58828084	0.81[EUR][1000 genomes]
rs6989958	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6992107	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs6992139	0.87[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72644597	0.86[EUR][1000 genomes]
rs72644602	0.84[EUR][1000 genomes]
rs72646321	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72646324	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72646348	0.83[EUR][1000 genomes]
rs72646350	0.83[EUR][1000 genomes]
rs7822371	0.81[EUR][1000 genomes]
rs7824929	1.00[YRI][hapmap]
rs7829543	0.83[EUR][1000 genomes]
rs7834901	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7839055	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9650144	0.86[EUR][1000 genomes]

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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48351400-48387000	Weak transcription	Left Ventricle	heart
2	chr8:48353000-48390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:48353400-48382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:48362800-48387400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:48362800-48387600	Weak transcription	Ovary	ovary
6	chr8:48364600-48384400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:48364600-48386000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:48371800-48380400	Weak transcription	Thymus	Thymus
9	chr8:48372200-48379000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:48372800-48383400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:48373400-48390200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:48373800-48377400	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:48374600-48377400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:48374600-48388800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:48375000-48384600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:48375000-48392000	Weak transcription	Aorta	Aorta
18	chr8:48376000-48378600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:48376600-48378000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:48376600-48390000	Weak transcription	Primary B cells from cord blood	blood
21	chr8:48376800-48377400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:48376800-48377400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:48376800-48377400	Weak transcription	Pancreas	Pancrea
24	chr8:48376800-48377600	Enhancers	NHEK	skin
25	chr8:48376800-48378000	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr8:48377000-48377400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr8:48377000-48377400	ZNF genes & repeats	Esophagus	oesophagus
28	chr8:48377000-48377800	ZNF genes & repeats	HMEC	breast
29	chr8:48377200-48377400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:48377200-48377600	Weak transcription	HSMM	muscle
31	chr8:48377200-48377800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr8:48377200-48383600	Weak transcription	Fetal Lung	lung
33	chr8:48377200-48383600	Weak transcription	A549	lung
34	chr8:48377200-48384600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links