Variant report

Variant	rs4128682
Chromosome Location	chr12:20654265-20654266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11045261	1.00[YRI][hapmap]
rs11045297	1.00[CHB][hapmap]
rs12308852	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12309205	1.00[YRI][hapmap]
rs12319897	1.00[AMR][1000 genomes]
rs12322107	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58500193	1.00[AMR][1000 genomes]
rs7315451	1.00[AFR][1000 genomes]
rs73238434	1.00[AMR][1000 genomes]
rs73238439	1.00[AMR][1000 genomes]
rs73238452	1.00[AMR][1000 genomes]
rs73240404	1.00[AMR][1000 genomes]
rs73240410	1.00[AMR][1000 genomes]
rs73240412	1.00[AMR][1000 genomes]
rs73240420	1.00[AMR][1000 genomes]
rs7485410	1.00[CHB][hapmap]
rs7954835	1.00[AMR][1000 genomes]
rs7974376	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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20642400-20660000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:20645600-20656800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:20645600-20658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20647000-20660600	Weak transcription	Left Ventricle	heart
5	chr12:20647200-20664000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:20648200-20656800	Weak transcription	Hela-S3	cervix
7	chr12:20648200-20660800	Weak transcription	Aorta	Aorta
8	chr12:20648400-20657000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:20649600-20660600	Weak transcription	Right Ventricle	heart
10	chr12:20649600-20662000	Weak transcription	Pancreas	Pancrea
11	chr12:20652800-20660200	Weak transcription	HUVEC	blood vessel

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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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