Variant report

Variant	rs945251
Chromosome Location	chr6:4091807-4091808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1204950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761786	1.00[AFR][1000 genomes]
rs582301	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs605301	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs608917	0.93[ASN][1000 genomes]
rs611677	0.93[ASN][1000 genomes]
rs622859	0.93[ASN][1000 genomes]
rs625577	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627902	0.93[ASN][1000 genomes]
rs629533	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs633677	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs644150	0.82[AMR][1000 genomes]
rs656694	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs689112	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs689114	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs853412	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853421	0.93[ASN][1000 genomes]
rs853422	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
4	nsv462615	chr6:4052383-4096678	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv600860	chr6:4052383-4096678	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr6:4079400-4092000	Weak transcription	Right Atrium	heart
2	chr6:4089400-4092400	Weak transcription	Pancreas	Pancrea
3	chr6:4089800-4092200	Weak transcription	Stomach Mucosa	stomach
4	chr6:4089800-4092800	Weak transcription	Colonic Mucosa	Colon
5	chr6:4090000-4093400	Weak transcription	Fetal Heart	heart
6	chr6:4090600-4092800	Enhancers	Fetal Intestine Small	intestine
7	chr6:4090800-4103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:4091200-4093400	Enhancers	Fetal Intestine Large	intestine
9	chr6:4091400-4092200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:4091400-4092800	Enhancers	HepG2	liver
11	chr6:4091600-4092000	Enhancers	Duodenum Mucosa	Duodenum
12	chr6:4091600-4092000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr6:4091600-4092800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:4091800-4092000	Enhancers	Small Intestine	intestine

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Input of quick search could be:

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

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