Variant report

Variant	rs2718930
Chromosome Location	chr15:56543546-56543547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1031077	0.94[CEU][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs10851601	0.81[EUR][1000 genomes]
rs10851603	0.86[EUR][1000 genomes]
rs1087838	0.86[CHB][hapmap]
rs11071252	0.85[EUR][1000 genomes]
rs11071254	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11637507	0.80[EUR][1000 genomes]
rs11637789	0.94[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs12437864	0.94[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs12439682	0.94[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12439907	0.94[CEU][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs12440142	0.91[EUR][1000 genomes]
rs12442539	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12443429	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12591270	0.84[EUR][1000 genomes]
rs12591294	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12592096	0.86[EUR][1000 genomes]
rs12592449	0.80[EUR][1000 genomes]
rs12595840	0.94[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs16976760	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs16976788	0.94[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs16976826	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1879348	0.94[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2681977	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2713903	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs4363812	0.94[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs58265497	0.81[EUR][1000 genomes]
rs59230019	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60417530	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72740505	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs748970	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs8027386	0.90[AMR][1000 genomes];0.91[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	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56538200-56546600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:56538400-56544000	Weak transcription	Fetal Brain Male	brain
3	chr15:56538400-56546000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:56538800-56544000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:56538800-56544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:56538800-56546400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:56538800-56546600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:56540800-56544200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:56541200-56543800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:56541400-56543800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:56541400-56543800	Weak transcription	Stomach Mucosa	stomach
12	chr15:56541400-56544200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:56541600-56544000	Weak transcription	Fetal Intestine Large	intestine
14	chr15:56542400-56543600	Weak transcription	Fetal Intestine Small	intestine
15	chr15:56543000-56545200	Enhancers	K562	blood
16	chr15:56543200-56545200	Enhancers	Primary hematopoietic stem cells	blood
17	chr15:56543400-56544400	Enhancers	Skeletal Muscle Female	skeletal muscle

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