Variant report

Variant	rs13428805
Chromosome Location	chr2:56541532-56541533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10167104	1.00[EUR][1000 genomes]
rs10186011	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10195550	1.00[AMR][1000 genomes]
rs28460708	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72929104	1.00[EUR][1000 genomes]
rs7589413	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7599517	1.00[EUR][1000 genomes]
rs9750062	0.96[AFR][1000 genomes]
rs9808203	1.00[AMR][1000 genomes]
rs9808574	0.81[AFR][1000 genomes];1.00[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:14 , 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	chr2:56540400-56542000	Enhancers	Fetal Intestine Large	intestine
5	chr2:56540400-56543400	Enhancers	Adipose Nuclei	Adipose
6	chr2:56540600-56541600	Enhancers	Fetal Intestine Small	intestine
7	chr2:56540600-56542000	Enhancers	Fetal Muscle Leg	muscle
8	chr2:56540600-56542400	Enhancers	Psoas Muscle	Psoas
9	chr2:56540800-56542000	Enhancers	Right Atrium	heart
10	chr2:56541000-56542000	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:56541000-56542000	Enhancers	Right Ventricle	heart
12	chr2:56541200-56541600	Enhancers	Colon Smooth Muscle	Colon
13	chr2:56541200-56542800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:56541400-56545400	Weak transcription	Left Ventricle	heart

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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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