Variant report

Variant	rs2152188
Chromosome Location	chr20:16592474-16592475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12480359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480414	0.85[ASN][1000 genomes]
rs12480716	1.00[AFR][1000 genomes]
rs12481267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17675170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs56055024	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56063556	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057674	chr20:16564642-16593209	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv1055217	chr20:16568062-16596470	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16587000-16593200	Enhancers	Fetal Intestine Large	intestine
2	chr20:16589000-16592600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr20:16589000-16593000	Enhancers	Fetal Intestine Small	intestine
4	chr20:16589200-16596000	Weak transcription	Colon Smooth Muscle	Colon
5	chr20:16589400-16593400	Weak transcription	HSMMtube	muscle
6	chr20:16589800-16596200	Weak transcription	Fetal Kidney	kidney
7	chr20:16590000-16596000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr20:16590000-16596400	Weak transcription	Ovary	ovary
9	chr20:16590000-16602400	Weak transcription	Right Atrium	heart
10	chr20:16590400-16595800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:16590400-16595800	Weak transcription	Small Intestine	intestine
12	chr20:16590400-16596200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr20:16590600-16592600	Weak transcription	Fetal Lung	lung
14	chr20:16590600-16594000	Weak transcription	Fetal Brain Male	brain
15	chr20:16590800-16595400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:16591400-16593000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr20:16592200-16593000	Enhancers	Colonic Mucosa	Colon
18	chr20:16592200-16597000	Enhancers	Fetal Muscle Leg	muscle
19	chr20:16592400-16594400	Enhancers	Sigmoid Colon	Sigmoid Colon

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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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