Variant report

Variant	rs1413427
Chromosome Location	chr1:86886616-86886617
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86885972..86887925-chr1:86962240..86964200,2	K562	blood:
2	chr1:86885972..86888275-chr1:86961314..86964200,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10782571	0.94[ASN][1000 genomes]
rs10873771	0.88[ASN][1000 genomes]
rs10873772	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10873773	0.94[ASN][1000 genomes]
rs10873774	0.92[ASN][1000 genomes]
rs10873775	0.94[ASN][1000 genomes]
rs10873776	0.94[ASN][1000 genomes]
rs10873778	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1116108	0.96[CEU][hapmap]
rs1116109	0.96[ASN][1000 genomes]
rs11161803	0.90[ASN][1000 genomes]
rs11161804	0.90[ASN][1000 genomes]
rs11161805	0.94[ASN][1000 genomes]
rs11161807	0.94[ASN][1000 genomes]
rs11161811	0.98[ASN][1000 genomes]
rs11799437	0.95[CEU][hapmap]
rs11802019	0.92[CEU][hapmap]
rs11810689	0.94[ASN][1000 genomes]
rs12031536	0.90[ASN][1000 genomes]
rs12033867	0.95[ASN][1000 genomes]
rs12072655	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407719	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1407720	0.94[ASN][1000 genomes]
rs1413429	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16908	0.96[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17372196	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1830675	0.88[ASN][1000 genomes]
rs1999600	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2031136	0.94[ASN][1000 genomes]
rs2093612	0.92[ASN][1000 genomes]
rs2181418	0.93[ASN][1000 genomes]
rs2210641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273941	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2275000	0.90[ASN][1000 genomes]
rs2275001	0.84[CEU][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2390057	0.82[CEU][hapmap]
rs2390096	0.94[ASN][1000 genomes]
rs2390097	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2390099	0.94[ASN][1000 genomes]
rs35173920	0.86[ASN][1000 genomes]
rs3737159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737672	0.96[CEU][hapmap];0.84[AFR][1000 genomes]
rs3765986	0.92[CEU][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3945233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534352	0.94[ASN][1000 genomes]
rs4656026	0.90[ASN][1000 genomes]
rs4656044	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs58200516	0.94[ASN][1000 genomes]
rs6658025	0.92[ASN][1000 genomes]
rs6674140	0.94[ASN][1000 genomes]
rs6703576	0.94[ASN][1000 genomes]
rs67799288	0.94[ASN][1000 genomes]
rs7415758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7515651	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7541004	0.86[ASN][1000 genomes]
rs7553685	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs956499	0.96[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.87[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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86882200-86894800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:86885000-86889200	Enhancers	NHEK	skin
3	chr1:86885200-86887200	Enhancers	Hela-S3	cervix
4	chr1:86885200-86889400	Enhancers	HMEC	breast
5	chr1:86885200-86889600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:86885400-86886800	Weak transcription	NHDF-Ad	bronchial
7	chr1:86885400-86887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:86885400-86887400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:86885400-86887800	Weak transcription	Esophagus	oesophagus
10	chr1:86886000-86886800	Weak transcription	Fetal Heart	heart
11	chr1:86886000-86887400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:86886200-86887200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:86886600-86887000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:86886600-86887200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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