Variant report

Variant	rs13428678
Chromosome Location	chr2:56541258-56541259
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13389257	1.00[EUR][1000 genomes]
rs13396099	1.00[EUR][1000 genomes]
rs13396365	1.00[TSI][hapmap]
rs13398499	1.00[EUR][1000 genomes]
rs13424203	1.00[EUR][1000 genomes]
rs13426375	1.00[EUR][1000 genomes]
rs13427586	1.00[EUR][1000 genomes]
rs17047868	1.00[EUR][1000 genomes]
rs28530709	1.00[EUR][1000 genomes]
rs28723570	1.00[EUR][1000 genomes]
rs4287805	1.00[EUR][1000 genomes]
rs56274428	1.00[EUR][1000 genomes]
rs57138748	1.00[EUR][1000 genomes]
rs6545569	1.00[TSI][hapmap]
rs6736677	1.00[EUR][1000 genomes]
rs7355401	1.00[EUR][1000 genomes]
rs73940651	0.83[AMR][1000 genomes]
rs73940673	1.00[EUR][1000 genomes]
rs73940701	1.00[EUR][1000 genomes]
rs73940702	1.00[EUR][1000 genomes]
rs7576776	1.00[EUR][1000 genomes]
rs7582740	1.00[TSI][hapmap]
rs7596900	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv522006	chr2:56496589-56545845	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527400-56547400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:56527600-56561000	Weak transcription	HSMM	muscle
3	chr2:56537800-56541600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:56540000-56541400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:56540400-56542000	Enhancers	Fetal Intestine Large	intestine
6	chr2:56540400-56543400	Enhancers	Adipose Nuclei	Adipose
7	chr2:56540600-56541400	Enhancers	Left Ventricle	heart
8	chr2:56540600-56541600	Enhancers	Fetal Intestine Small	intestine
9	chr2:56540600-56542000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:56540600-56542400	Enhancers	Psoas Muscle	Psoas
11	chr2:56540800-56542000	Enhancers	Right Atrium	heart
12	chr2:56541000-56541400	Enhancers	Brain Angular Gyrus	brain
13	chr2:56541000-56541400	Enhancers	Colonic Mucosa	Colon
14	chr2:56541000-56541400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:56541000-56542000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:56541000-56542000	Enhancers	Right Ventricle	heart
17	chr2:56541200-56541600	Enhancers	Colon Smooth Muscle	Colon
18	chr2:56541200-56542800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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