Variant report

Variant	rs6679193
Chromosome Location	chr1:216703840-216703841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10495026	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863248	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11117609	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117610	0.81[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs11117611	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11572810	0.89[ASN][1000 genomes]
rs11572811	0.83[JPT][hapmap]
rs11572813	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12089635	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117030	0.81[CHB][hapmap]
rs12117150	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118392	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118884	0.81[CHB][hapmap]
rs12125859	0.81[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs12128944	0.81[JPT][hapmap]
rs12144650	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757147	0.81[CHB][hapmap]
rs1498285	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498286	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846224	0.81[CHB][hapmap]
rs1846226	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101981	0.81[CHB][hapmap]
rs4420152	0.82[JPT][hapmap]
rs6604629	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604630	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6604632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6678548	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678856	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679623	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680913	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683007	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683442	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695067	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543237	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1008939	chr1:216688284-216712570	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216673200-216704600	Weak transcription	Pancreas	Pancrea
2	chr1:216680600-216704600	Weak transcription	Left Ventricle	heart
3	chr1:216692600-216705200	Weak transcription	Placenta	Placenta
4	chr1:216697400-216704000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:216697400-216704600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:216697400-216704600	Weak transcription	Fetal Heart	heart
7	chr1:216697600-216704400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:216697800-216704400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:216698000-216704000	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:216699600-216704400	Weak transcription	Fetal Kidney	kidney
11	chr1:216701200-216704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:216701400-216704600	Weak transcription	Gastric	stomach
13	chr1:216701600-216704200	Enhancers	Primary B cells from cord blood	blood
14	chr1:216702400-216704200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:216702400-216704600	Weak transcription	Fetal Intestine Large	intestine
16	chr1:216702600-216704400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:216702600-216704400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:216702600-216704600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:216702600-216704600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:216702800-216704200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:216702800-216704400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:216702800-216704600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:216703000-216704400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:216703000-216704400	Weak transcription	GM12878-XiMat	blood
25	chr1:216703000-216704600	Weak transcription	Fetal Intestine Small	intestine
26	chr1:216703600-216704400	Enhancers	Stomach Mucosa	stomach
27	chr1:216703800-216704000	Flanking Active TSS	Fetal Lung	lung
28	chr1:216703800-216704000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:216703800-216704200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:216703800-216704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:216703800-216704600	Flanking Active TSS	Liver	Liver

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