Variant report

Variant	rs518127
Chromosome Location	chr15:53495930-53495931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1317100	0.84[AFR][1000 genomes]
rs17660118	0.85[AFR][1000 genomes]
rs473249	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs515672	0.88[AFR][1000 genomes]
rs523116	0.83[AFR][1000 genomes]
rs525096	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs534887	0.85[AFR][1000 genomes]
rs538505	0.91[CHB][hapmap];0.86[CHD][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]
rs550813	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs551787	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572221	0.84[AFR][1000 genomes]
rs578363	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689771	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs689818	0.85[AFR][1000 genomes]
rs689856	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690013	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs690050	0.92[ASN][1000 genomes]
rs690264	0.87[AFR][1000 genomes]
rs690271	0.84[AFR][1000 genomes]
rs690449	0.83[AFR][1000 genomes]
rs7169933	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8031971	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343986	chr15:53284440-53571936	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1037630	chr15:53324645-53708925	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1051634	chr15:53459129-53565627	Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3385784	chr15:53492461-53521900	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53489000-53496000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:53493200-53497200	Enhancers	Dnd41	blood
3	chr15:53493400-53496800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:53493400-53497000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:53493800-53496600	Enhancers	Fetal Thymus	thymus
6	chr15:53493800-53496600	Enhancers	Thymus	Thymus
7	chr15:53493800-53497400	Enhancers	Primary hematopoietic stem cells	blood
8	chr15:53495000-53496400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr15:53495000-53496400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr15:53495000-53496400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr15:53495000-53496400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:53495000-53498800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:53495200-53496200	Enhancers	Pancreas	Pancrea
14	chr15:53495200-53496400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr15:53495200-53496400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr15:53495200-53496600	Enhancers	Psoas Muscle	Psoas
17	chr15:53495200-53503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:53495600-53496000	Enhancers	Liver	Liver
19	chr15:53495600-53496200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr15:53495600-53496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:53495600-53496200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr15:53495800-53496000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:53495800-53496200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr15:53495800-53496400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:53495800-53496600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:53495800-53496600	Enhancers	HepG2	liver

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