Variant report

Variant	rs4688038
Chromosome Location	chr3:119498808-119498809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12721613	1.00[MEX][hapmap]
rs1523128	0.94[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1523129	0.94[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830442	1.00[EUR][1000 genomes]
rs2472668	0.81[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2688635	1.00[MEX][hapmap]
rs2688643	1.00[MEX][hapmap]
rs2692619	1.00[MEX][hapmap]
rs4234663	1.00[MEX][hapmap]
rs4355316	1.00[MEX][hapmap]
rs4411917	1.00[MEX][hapmap]
rs4687883	1.00[MEX][hapmap]
rs4688036	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6438543	1.00[MEX][hapmap]
rs940087	1.00[MEX][hapmap]
rs954356	1.00[EUR][1000 genomes]
rs9816750	1.00[MEX][hapmap]
rs9838456	1.00[MEX][hapmap]

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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119496800-119499400	Enhancers	HSMM	muscle
2	chr3:119497000-119499400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:119497800-119499200	Enhancers	HSMMtube	muscle
4	chr3:119497800-119499200	Enhancers	K562	blood
5	chr3:119497800-119503000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:119498000-119499400	Enhancers	Fetal Muscle Leg	muscle
7	chr3:119498000-119499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:119498000-119499600	Enhancers	GM12878-XiMat	blood
9	chr3:119498200-119501000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:119498400-119499600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:119498600-119499600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr3:119498600-119499800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:119498800-119499000	Enhancers	Spleen	Spleen
14	chr3:119498800-119499600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:119498800-119500000	Enhancers	HepG2	liver
16	chr3:119498800-119500400	Enhancers	Liver	Liver
17	chr3:119498800-119500600	Enhancers	Fetal Intestine Large	intestine
18	chr3:119498800-119500600	Enhancers	Fetal Intestine Small	intestine

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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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