Variant report

Variant	rs11990863
Chromosome Location	chr8:21001379-21001380
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	chr8:21000566..21002926-chr8:21006520..21008330,2	K562	blood:
2	chr8:21000646..21002417-chr8:21003581..21006297,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10112502	0.85[ASN][1000 genomes]
rs10503698	0.84[ASN][1000 genomes]
rs11996651	0.94[ASN][1000 genomes]
rs12674821	0.92[ASN][1000 genomes]
rs12675109	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12676979	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12677314	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12678981	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679819	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12679855	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12680270	0.94[ASN][1000 genomes]
rs12680287	0.94[ASN][1000 genomes]
rs12681224	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267839	0.90[ASN][1000 genomes]
rs1563919	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1563920	0.94[ASN][1000 genomes]
rs1563921	0.94[ASN][1000 genomes]
rs17605964	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1841510	0.85[ASN][1000 genomes]
rs2631894	0.97[ASN][1000 genomes]
rs34133224	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34326138	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34402513	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35089394	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35508548	0.85[ASN][1000 genomes]
rs35923081	0.81[ASN][1000 genomes]
rs3903353	0.86[ASN][1000 genomes]
rs4739209	0.94[ASN][1000 genomes]
rs4739280	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60715093	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7015657	0.86[ASN][1000 genomes]
rs898648	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1034265	chr8:20742935-21152545	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv539528	chr8:20742935-21152545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831260	chr8:20907266-21097125	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv469878	chr8:20955260-21128307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv482339	chr8:20955260-21128307	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv831261	chr8:20996095-21193619	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv890649	chr8:21001379-21171259	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11990863	GFRA2	cis	cerebellum	SCAN
rs11990863	BMP1	cis	parietal	SCAN
rs11990863	TNFRSF10D	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20996800-21001400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:21000400-21001600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:21000400-21002000	Enhancers	Fetal Muscle Leg	muscle
4	chr8:21000800-21001600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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