Variant report

Variant	rs13416208
Chromosome Location	chr2:30962560-30962561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10184109	0.83[AFR][1000 genomes]
rs10211502	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13390008	1.00[AFR][1000 genomes]
rs13418291	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13423931	0.81[AFR][1000 genomes]
rs72867118	1.00[EUR][1000 genomes]
rs7355379	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv873770	chr2:30952987-30984850	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv520269	chr2:30958137-30988375	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30940600-30969600	Weak transcription	Stomach Mucosa	stomach
2	chr2:30953600-30965200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:30954000-30965400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:30956000-30964000	Weak transcription	Gastric	stomach
5	chr2:30957000-30969800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:30957200-30964400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:30960000-30963800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:30960400-30980000	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:30961000-30965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:30961400-30964800	Weak transcription	Fetal Stomach	stomach
11	chr2:30961600-30978400	Weak transcription	Pancreas	Pancrea
12	chr2:30962000-30970200	Weak transcription	Brain Substantia Nigra	brain

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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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