Variant report

Variant	rs9295353
Chromosome Location	chr6:166993938-166993939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12190451	0.92[JPT][hapmap]
rs3778384	0.91[JPT][hapmap]
rs3778385	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs3778386	0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs3778390	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778391	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799584	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs3799597	0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs3799598	0.81[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs3799600	0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs3799602	0.80[EUR][1000 genomes]
rs3799603	0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs3799606	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs3799607	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4710069	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4710070	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4710071	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs56064314	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6928849	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs7742514	0.86[EUR][1000 genomes]
rs9457187	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs9457189	0.84[JPT][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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029530	chr6:166977678-167016052	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166979400-166996600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:166979400-166997600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:166981800-167002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:166986000-166996400	Weak transcription	Fetal Kidney	kidney
5	chr6:166986200-167002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:166986600-166994800	Weak transcription	Pancreas	Pancrea
7	chr6:166986600-167001400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:166986800-166994800	Weak transcription	Gastric	stomach
9	chr6:166986800-166997800	Weak transcription	Brain Substantia Nigra	brain
10	chr6:166986800-167003000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:166987000-166994800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:166987000-166995400	Weak transcription	Spleen	Spleen
13	chr6:166987000-166996600	Weak transcription	Osteobl	bone
14	chr6:166987000-166997200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:166987000-167002000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:166987200-166995000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:166987200-166997600	Weak transcription	NHLF	lung
18	chr6:166987200-166998400	Weak transcription	NH-A	brain
19	chr6:166987200-167001800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:166987800-166994800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:166987800-166996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:166989000-166996600	Weak transcription	Esophagus	oesophagus
23	chr6:166989000-167011400	Weak transcription	Ovary	ovary
24	chr6:166989600-167001800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:166990600-167001800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:166991600-166997800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:166991600-166998800	Enhancers	Fetal Brain Male	brain
28	chr6:166991800-166996000	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:166991800-166996600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:166992000-166995600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:166992000-166998800	Enhancers	Fetal Muscle Leg	muscle
32	chr6:166992400-166994200	Enhancers	Left Ventricle	heart
33	chr6:166992400-166995400	Weak transcription	Lung	lung
34	chr6:166992400-167000200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:166992400-167000400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:166993200-166995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:166993600-166994000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:166993600-166995600	Weak transcription	HSMM	muscle
39	chr6:166993600-166995600	Weak transcription	HSMMtube	muscle
40	chr6:166993600-167003000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:166993800-166994000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:166993800-166994000	Enhancers	Brain Germinal Matrix	brain
43	chr6:166993800-166994000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:166993800-166994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:166993800-166994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:166993800-166994800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:166993800-166995200	Weak transcription	Right Ventricle	heart
48	chr6:166993800-166995400	Weak transcription	Fetal Stomach	stomach
49	chr6:166993800-166996600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:166993800-166996800	Weak transcription	Fetal Heart	heart

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