Variant report

Variant	rs6013977
Chromosome Location	chr20:52952000-52952001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52932133..52934142-chr20:52951112..52954074,2	MCF-7	breast:
2	chr20:52944672..52948060-chr20:52948300..52952949,4	MCF-7	breast:
3	chr20:52937969..52941351-chr20:52951827..52954635,3	MCF-7	breast:
4	chr20:52823425..52825938-chr20:52950686..52952952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101132	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1087050	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1293147	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1382013	0.82[EUR][1000 genomes]
rs16999452	0.82[EUR][1000 genomes]
rs16999466	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16999487	1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs16999504	0.91[EUR][1000 genomes]
rs16999513	0.82[EUR][1000 genomes]
rs2219733	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs28373824	0.82[EUR][1000 genomes]
rs28516647	0.82[EUR][1000 genomes]
rs2870321	0.82[EUR][1000 genomes]
rs4289245	0.82[EUR][1000 genomes]
rs4493332	0.82[EUR][1000 genomes]
rs4541294	0.82[EUR][1000 genomes]
rs4599177	0.82[EUR][1000 genomes]
rs4619676	0.82[EUR][1000 genomes]
rs56149353	0.82[EUR][1000 genomes]
rs56268746	0.82[EUR][1000 genomes]
rs58025571	0.82[EUR][1000 genomes]
rs58475917	0.82[EUR][1000 genomes]
rs58894404	0.82[EUR][1000 genomes]
rs59811202	0.82[EUR][1000 genomes]
rs6013930	1.00[CEU][hapmap]
rs6013973	0.92[EUR][1000 genomes]
rs6013974	0.92[EUR][1000 genomes]
rs6013980	0.91[EUR][1000 genomes]
rs6013981	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6023077	0.84[EUR][1000 genomes]
rs6023109	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6023111	0.82[EUR][1000 genomes]
rs6023113	0.82[EUR][1000 genomes]
rs6023114	0.82[EUR][1000 genomes]
rs6023116	0.82[EUR][1000 genomes]
rs6023118	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6023119	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6023120	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6023124	0.82[EUR][1000 genomes]
rs6023126	0.82[EUR][1000 genomes]
rs6023128	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6023139	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6023144	0.91[EUR][1000 genomes]
rs6097927	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707552	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs723128	0.82[EUR][1000 genomes]
rs7264904	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7265137	0.82[EUR][1000 genomes]
rs7265354	0.82[EUR][1000 genomes]
rs73137426	0.84[EUR][1000 genomes]
rs73137431	0.84[EUR][1000 genomes]
rs73137432	0.84[EUR][1000 genomes]
rs73137433	0.84[EUR][1000 genomes]
rs73137434	0.84[EUR][1000 genomes]
rs73137435	0.84[EUR][1000 genomes]
rs73139427	0.82[EUR][1000 genomes]
rs73139465	0.82[EUR][1000 genomes]
rs73139467	0.82[EUR][1000 genomes]
rs73139469	0.82[EUR][1000 genomes]
rs73139472	0.82[EUR][1000 genomes]
rs73139477	0.82[EUR][1000 genomes]
rs7347628	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs793039	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs793040	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs793045	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs793046	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs793047	0.94[ASN][1000 genomes]
rs793048	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs793049	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs793050	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs811571	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8119798	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6013977	DAPK1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52951000-52957200	Weak transcription	Gastric	stomach
2	chr20:52951600-52952400	Enhancers	NHEK	skin
3	chr20:52951600-52952400	Enhancers	Osteobl	bone
4	chr20:52951800-52952200	Enhancers	HUVEC	blood vessel
5	chr20:52952000-52952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:52952000-52952400	Enhancers	Muscle Satellite Cultured Cells	--

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