Variant report

Variant	rs965135
Chromosome Location	chr21:28289664-28289665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10482979	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11700721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047132	0.95[EUR][1000 genomes]
rs13047248	0.95[EUR][1000 genomes]
rs13048083	0.95[EUR][1000 genomes]
rs13051983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444269	0.80[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs1444273	1.00[ASN][1000 genomes]
rs149415	0.97[EUR][1000 genomes]
rs2017616	0.95[EUR][1000 genomes]
rs229053	1.00[CHD][hapmap]
rs2830576	1.00[ASN][1000 genomes]
rs2830578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830590	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2830591	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3171407	0.96[EUR][1000 genomes]
rs34609314	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35197958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35274919	1.00[ASN][1000 genomes]
rs35275133	1.00[ASN][1000 genomes]
rs36125779	0.95[EUR][1000 genomes]
rs3746836	0.80[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs62215975	1.00[ASN][1000 genomes]
rs62215996	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7283958	0.95[EUR][1000 genomes]
rs8130155	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1063371	chr21:28282660-28294991	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
6	nsv1065825	chr21:28282660-28296389	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
7	nsv1067026	chr21:28282660-28298049	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
8	nsv1066904	chr21:28282834-28296389	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28282400-28295000	Weak transcription	Fetal Kidney	kidney
2	chr21:28283600-28290800	Weak transcription	HSMMtube	muscle
3	chr21:28283600-28290800	Weak transcription	NHDF-Ad	bronchial
4	chr21:28288600-28291200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr21:28288600-28292400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:28288800-28291400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:28289000-28290000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr21:28289000-28290800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr21:28289000-28293000	Enhancers	Hela-S3	cervix
10	chr21:28289400-28290600	Enhancers	HSMM	muscle
11	chr21:28289400-28291000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:28289600-28290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr21:28289600-28290400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:28289600-28290400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr21:28289600-28290600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr21:28289600-28291000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr21:28289600-28292400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28289600-28295200	Weak transcription	Adipose Nuclei	Adipose
19	chr21:28289600-28296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:28289600-28296000	Weak transcription	Ovary	ovary
21	chr21:28289600-28298000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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