Variant report

Variant	rs6696160
Chromosome Location	chr1:162074163-162074164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10157090	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10159401	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10458387	0.86[JPT][hapmap]
rs10458392	0.86[JPT][hapmap]
rs10494366	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10737536	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10753754	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10753762	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10800298	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10800301	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800303	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10800305	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10800307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800311	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10918615	0.82[JPT][hapmap]
rs10918630	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10918671	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10918680	0.84[EUR][1000 genomes]
rs10918681	0.83[EUR][1000 genomes]
rs10918684	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10918687	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10918688	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11579080	0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11579850	0.85[EUR][1000 genomes]
rs11580365	0.85[EUR][1000 genomes]
rs11808624	0.83[EUR][1000 genomes]
rs12022557	0.86[JPT][hapmap]
rs12033159	0.92[ASN][1000 genomes]
rs12036268	0.92[ASN][1000 genomes]
rs12036529	0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs12406484	0.85[EUR][1000 genomes]
rs12406785	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12407513	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12727141	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12727810	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12733821	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1337060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415257	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1415258	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415259	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415260	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415264	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1415265	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1572498	0.80[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1572499	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1577771	0.92[ASN][1000 genomes]
rs2095626	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2210942	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2225845	0.82[AMR][1000 genomes]
rs2225846	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2225847	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922867	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4098274	0.86[AMR][1000 genomes]
rs4656348	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4656349	0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4656350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656352	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657140	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4657141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657142	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4657143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657145	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4657152	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4657154	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4657155	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5000342	0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6413902	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6427650	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6427651	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6664115	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6672881	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6684179	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6684278	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6688966	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7417931	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7512106	0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs7515045	0.85[JPT][hapmap]
rs7521236	0.85[EUR][1000 genomes]
rs7534045	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7538490	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7541332	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7551959	0.84[EUR][1000 genomes]
rs7555508	0.80[AMR][1000 genomes]
rs945706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1821140	chr1:162047541-162389040	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1818566	chr1:162061209-162430009	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv1823751	chr1:162063023-162344102	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1821064	chr1:162063023-162363991	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv2756867	chr1:162064468-162360008	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv1822491	chr1:162064468-162369410	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv2758973	chr1:162064468-162503356	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	esv1822160	chr1:162064487-162386000	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	esv1824093	chr1:162064506-162363104	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	esv1823861	chr1:162064544-162363263	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	esv1819558	chr1:162064587-162091284	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv1824795	chr1:162065253-162363732	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	esv1822749	chr1:162066174-162363729	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
16	esv1815927	chr1:162066968-162366204	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
17	esv1821375	chr1:162067447-162294282	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
18	nsv872500	chr1:162067447-162367654	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
19	esv1818280	chr1:162072107-162503356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv831759	chr1:162073956-162178882	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162063200-162074400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:162063200-162077400	Weak transcription	Liver	Liver
3	chr1:162064800-162077200	Weak transcription	HepG2	liver
4	chr1:162072600-162074600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:162073000-162079600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:162074000-162075600	Weak transcription	Fetal Intestine Small	intestine

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