Variant report

Variant	rs8017931
Chromosome Location	chr14:63210951-63210952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10047855	0.81[CEU][hapmap]
rs10047858	0.81[CEU][hapmap]
rs10133621	0.86[LWK][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap]
rs10141683	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1041644	0.81[MEX][hapmap]
rs10483754	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs11158448	0.86[MEX][hapmap]
rs11158449	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs11627747	0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11627838	0.92[ASN][1000 genomes]
rs12587728	0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs12885827	0.88[ASN][1000 genomes]
rs4902181	0.94[ASN][1000 genomes]
rs61994833	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7141875	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142035	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7143550	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151907	0.81[ASW][hapmap];0.81[CEU][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8022157	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs8022524	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	nsv527675	chr14:63168547-63211280	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv974287	chr14:63210415-63211979	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8017931	TMEM30B	cis	parietal	SCAN
rs8017931	PRKCH	cis	cerebellum	SCAN
rs8017931	TRMT5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63202800-63212000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63207400-63216400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:63209000-63211600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:63210400-63211400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:63210400-63211400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:63210600-63211800	Weak transcription	H9 Cell Line	embryonic stem cell

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