Variant report

Variant	rs6137951
Chromosome Location	chr20:23429459-23429460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23428863..23430535-chr20:23433558..23435826,2	K562	blood:
2	chr20:23427640..23430149-chr20:23434541..23436355,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1076776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12625160	0.84[ASN][1000 genomes]
rs12625164	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12625999	0.84[ASN][1000 genomes]
rs12626013	0.84[ASN][1000 genomes]
rs17757228	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17757442	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17830281	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17830565	0.84[ASN][1000 genomes]
rs1936011	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2207988	0.84[ASN][1000 genomes]
rs2207989	0.84[ASN][1000 genomes]
rs2236021	0.81[ASN][1000 genomes]
rs2277765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281428	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2281434	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2295238	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34449811	0.83[ASN][1000 genomes]
rs34648279	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35810824	0.80[ASN][1000 genomes]
rs3736755	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3746733	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3746737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3761274	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3761275	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3827085	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3827086	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55851398	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56094936	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56334525	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6036411	0.84[ASN][1000 genomes]
rs6048803	0.83[ASN][1000 genomes]
rs6048809	0.83[ASN][1000 genomes]
rs6048810	0.84[ASN][1000 genomes]
rs6048811	0.84[ASN][1000 genomes]
rs6048813	0.84[ASN][1000 genomes]
rs6048820	0.84[ASN][1000 genomes]
rs6106656	0.84[ASN][1000 genomes]
rs6114094	0.83[ASN][1000 genomes]
rs6114098	0.84[ASN][1000 genomes]
rs6114100	0.84[ASN][1000 genomes]
rs6114101	0.84[ASN][1000 genomes]
rs6132599	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6132600	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6132605	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6132606	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6132609	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6132610	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6132617	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6132620	0.83[ASN][1000 genomes]
rs6132621	0.84[ASN][1000 genomes]
rs6132622	0.84[ASN][1000 genomes]
rs6132623	0.84[ASN][1000 genomes]
rs6132628	0.84[ASN][1000 genomes]
rs6137901	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6137907	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137910	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137913	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137914	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137915	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137917	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137919	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137920	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137927	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137929	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137930	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137931	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137936	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137937	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137938	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137939	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137941	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6137945	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137947	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137948	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137950	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137957	0.83[ASN][1000 genomes]
rs6137959	0.84[ASN][1000 genomes]
rs6137960	0.84[ASN][1000 genomes]
rs6137961	0.84[ASN][1000 genomes]
rs6137962	0.84[ASN][1000 genomes]
rs6137963	0.84[ASN][1000 genomes]
rs6137964	0.84[ASN][1000 genomes]
rs6137967	0.84[ASN][1000 genomes]
rs761722	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8183135	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv470544	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv585722	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv458949	chr20:23426648-23569400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv585723	chr20:23426648-23569400	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417200-23434800	Weak transcription	Gastric	stomach
2	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
3	chr20:23423000-23432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr20:23423800-23432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:23426400-23429600	Weak transcription	Fetal Thymus	thymus
6	chr20:23427600-23429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23427800-23431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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