Variant report

Variant	rs948017
Chromosome Location	chr11:93355909-93355910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93351079..93352996-chr11:93355516..93357214,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10765617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10831062	0.89[EUR][1000 genomes]
rs10831063	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10831064	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10831076	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831077	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020426	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11020427	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11020450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020454	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11020455	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11606802	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12222957	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939568	0.82[JPT][hapmap]
rs1939570	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1954783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2155247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34679231	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4237559	0.87[EUR][1000 genomes]
rs4753089	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4753093	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4753094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4753480	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67011570	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119935	0.87[EUR][1000 genomes]
rs7120590	0.91[EUR][1000 genomes];0.83[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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs948017	MED17	cis	parietal	SCAN
rs948017	C11orf54	cis	parietal	SCAN
rs948017	SCARNA9	cis	cerebellum	SCAN
rs948017	C11orf54	cis	cerebellum	SCAN
rs948017	MED17	cis	cerebellum	SCAN
rs948017	SCARNA9	cis	parietal	SCAN
rs948017	ANKRD49	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93348000-93357800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93355400-93357400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:93355400-93357400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr11:93355400-93359200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:93355600-93358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:93355800-93356400	Weak transcription	Pancreas	Pancrea
7	chr11:93355800-93357200	Enhancers	GM12878-XiMat	blood
8	chr11:93355800-93357400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:93355800-93358400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:93355800-93358400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:93355800-93358400	Enhancers	HUES64 Cell Line	embryonic stem cell

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