Variant report

Variant	rs57937000
Chromosome Location	chr6:71101624-71101625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3846747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3901019	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4532415	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56210276	0.94[AFR][1000 genomes]
rs58853059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60203363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73746019	0.85[AMR][1000 genomes]
rs73746020	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73746024	0.90[AFR][1000 genomes]
rs7454181	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7744323	1.00[AMR][1000 genomes]

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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer 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 target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71097600-71108000	Enhancers	Fetal Intestine Large	intestine
2	chr6:71099400-71108400	Enhancers	Fetal Intestine Small	intestine
3	chr6:71099800-71104800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:71100200-71101800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:71100400-71105800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:71100400-71105800	Weak transcription	A549	lung
7	chr6:71101000-71101800	Enhancers	K562	blood
8	chr6:71101200-71102200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr6:71101600-71101800	Enhancers	Small Intestine	intestine
10	chr6:71101600-71102000	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:71101600-71102600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:71101600-71104200	Weak transcription	Stomach Mucosa	stomach
13	chr6:71101600-71104200	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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