Variant report

Variant	rs7959519
Chromosome Location	chr12:124336804-124336805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124331556..124334545-chr12:124336250..124337801,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10773040	0.86[GIH][hapmap]
rs10773041	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10773046	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10773047	0.85[ASN][1000 genomes]
rs10846562	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10846564	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10846567	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10846570	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10846571	0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10846572	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10846573	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10846574	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11057381	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11057383	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11057388	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11057389	0.87[ASN][1000 genomes]
rs11057390	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12306328	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12307524	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12309481	1.00[JPT][hapmap]
rs1317312	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs1317386	1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1882489	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[ASN][1000 genomes]
rs1922258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2341779	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4390427	0.90[ASN][1000 genomes]
rs4930727	0.97[ASN][1000 genomes]
rs6488905	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488907	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6488910	1.00[JPT][hapmap]
rs7296123	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7297429	0.95[ASN][1000 genomes]
rs7300037	0.93[ASN][1000 genomes]
rs7300162	0.91[GIH][hapmap]
rs7303634	0.88[ASN][1000 genomes]
rs7313897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7314278	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7314335	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7959043	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7976319	1.00[JPT][hapmap]
rs7977078	1.00[JPT][hapmap]
rs7977713	0.84[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9669530	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7959519	B3GNT4	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124326000-124341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124331400-124352800	Weak transcription	Fetal Brain Female	brain
3	chr12:124334200-124344200	Weak transcription	Brain Germinal Matrix	brain

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