Variant report

Variant	rs1517764
Chromosome Location	chr7:145700350-145700351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:145697305..145699991-chr7:145700087..145702652,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13233813	0.86[ASN][1000 genomes]
rs13240373	1.00[ASN][1000 genomes]
rs17169912	1.00[ASN][1000 genomes]
rs17400407	1.00[ASN][1000 genomes]
rs17478096	0.93[ASN][1000 genomes]
rs34036926	0.86[ASN][1000 genomes]
rs34515851	1.00[ASN][1000 genomes]
rs34554035	1.00[ASN][1000 genomes]
rs35084927	0.86[ASN][1000 genomes]
rs35159841	0.86[ASN][1000 genomes]
rs35510964	1.00[ASN][1000 genomes]
rs35708343	1.00[ASN][1000 genomes]
rs4596568	1.00[ASN][1000 genomes]
rs4726773	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs55963320	1.00[ASN][1000 genomes]
rs57886306	1.00[ASN][1000 genomes]
rs58893674	1.00[ASN][1000 genomes]
rs62503430	1.00[ASN][1000 genomes]
rs62503433	1.00[ASN][1000 genomes]
rs6951652	1.00[ASN][1000 genomes]
rs6968866	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71530716	1.00[ASN][1000 genomes]
rs7458160	1.00[ASN][1000 genomes]
rs7458162	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1023861	chr7:145606069-145910049	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539170	chr7:145606069-145910049	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv889385	chr7:145617629-145803095	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1020950	chr7:145683419-146264304	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1024723	chr7:145691540-145777997	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv539171	chr7:145691540-145777997	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1517764	TRPV6	cis	cerebellum	SCAN
rs1517764	EPHB6	cis	parietal	SCAN
rs1517764	SSBP1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145698800-145700600	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:145699400-145700400	Enhancers	Primary B cells from peripheral blood	blood
3	chr7:145699400-145700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:145699800-145700400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:145700000-145700400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:145700200-145700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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