Variant report

Variant	rs17533512
Chromosome Location	chr2:39776309-39776310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12993058	0.82[AFR][1000 genomes]
rs12994521	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13015976	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13020343	0.82[AMR][1000 genomes]
rs13027520	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1405085	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2241162	0.89[EUR][1000 genomes]
rs35377016	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4670944	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71439259	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs734663	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39761800-39777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:39762200-39785000	Weak transcription	HSMMtube	muscle
3	chr2:39769200-39777000	Weak transcription	Fetal Heart	heart
4	chr2:39769600-39776600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:39770400-39776800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:39770800-39789600	Weak transcription	Left Ventricle	heart
7	chr2:39773200-39778200	Enhancers	HMEC	breast
8	chr2:39773600-39777200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:39774200-39778000	Enhancers	Placenta	Placenta
10	chr2:39774400-39777200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:39774400-39777600	Weak transcription	Hela-S3	cervix
12	chr2:39774600-39777600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:39775400-39776800	Weak transcription	Psoas Muscle	Psoas
14	chr2:39775600-39776800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:39775600-39777000	Weak transcription	HUVEC	blood vessel
16	chr2:39775600-39777600	Weak transcription	NH-A	brain
17	chr2:39775800-39780400	Enhancers	HepG2	liver
18	chr2:39776000-39777800	Weak transcription	NHEK	skin
19	chr2:39776200-39778000	Enhancers	Pancreas	Pancrea

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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