Variant report

Variant	rs6800121
Chromosome Location	chr3:113665342-113665343
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10804511	1.00[AMR][1000 genomes]
rs2566981	1.00[AMR][1000 genomes]
rs2566984	1.00[AMR][1000 genomes]
rs2566985	1.00[AMR][1000 genomes]
rs4359785	1.00[AMR][1000 genomes]
rs59292926	1.00[AMR][1000 genomes]
rs60238096	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781200	1.00[AMR][1000 genomes]
rs6799923	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952678	1.00[AMR][1000 genomes]
rs72952679	1.00[AMR][1000 genomes]
rs72952680	1.00[AMR][1000 genomes]
rs72952687	1.00[AMR][1000 genomes]
rs72954664	1.00[AMR][1000 genomes]
rs72954670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954680	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954688	1.00[AMR][1000 genomes]
rs7628645	1.00[AMR][1000 genomes]
rs7646432	1.00[AMR][1000 genomes]
rs7650388	1.00[AMR][1000 genomes]
rs7650416	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	esv1792060	chr3:113652774-113667160	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1794535	chr3:113652774-113667160	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1799628	chr3:113652774-113667160	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113631600-113666200	Weak transcription	Esophagus	oesophagus
2	chr3:113632000-113666000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:113636200-113666200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:113642600-113666000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:113643000-113666000	Weak transcription	Fetal Intestine Large	intestine
6	chr3:113647000-113666000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr3:113651400-113666000	Weak transcription	Colonic Mucosa	Colon
8	chr3:113654200-113666000	Weak transcription	Fetal Intestine Small	intestine
9	chr3:113654400-113666000	Weak transcription	Pancreas	Pancrea
10	chr3:113660200-113666000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:113660400-113666000	Weak transcription	HUVEC	blood vessel
12	chr3:113661800-113666200	Weak transcription	Lung	lung
13	chr3:113663800-113666000	Weak transcription	Liver	Liver
14	chr3:113664200-113666000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:113664800-113665400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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