Variant report

Variant	rs2372337
Chromosome Location	chr3:43186244-43186245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11718469	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12639294	0.84[TSI][hapmap]
rs13061707	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13087759	0.88[EUR][1000 genomes]
rs13098435	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1878723	0.88[ASN][1000 genomes]
rs1878724	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34118369	0.89[EUR][1000 genomes]
rs4683357	0.96[CEU][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs7648947	0.81[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv3784	chr3:43176397-43221254	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2372337	SLC6A20	cis	parietal	SCAN
rs2372337	TRAK1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43184000-43186600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:43184200-43186600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:43184200-43186800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:43184400-43188600	Weak transcription	HepG2	liver
5	chr3:43184800-43186800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:43184800-43186800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:43185200-43186600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:43185400-43186800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:43185600-43186600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:43185800-43186600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:43186200-43186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:43186200-43186800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:43186200-43186800	Enhancers	K562	blood
14	chr3:43186200-43187000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:43186200-43187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:43186200-43187400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:43186200-43187400	Enhancers	Muscle Satellite Cultured Cells	--

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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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