Variant report

Variant	rs1521193
Chromosome Location	chr8:9896019-9896020
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	chr8:9891135..9893844-chr8:9895731..9897309,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10098474	0.86[CHB][hapmap]
rs10104911	0.82[CHB][hapmap]
rs11249968	0.83[AMR][1000 genomes]
rs11249969	0.96[CEU][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs11249970	0.96[CEU][hapmap]
rs1160369	0.87[CEU][hapmap]
rs11779614	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11785434	0.91[CEU][hapmap]
rs12155541	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12542030	0.87[CEU][hapmap]
rs12545826	0.81[JPT][hapmap]
rs12679328	0.80[JPT][hapmap];0.81[AMR][1000 genomes]
rs13249013	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs13250499	0.96[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs13261836	0.96[CEU][hapmap]
rs1564808	0.91[CEU][hapmap]
rs17149332	0.82[CHB][hapmap]
rs1994223	0.82[CHB][hapmap]
rs1994224	0.86[CHB][hapmap]
rs2046398	0.82[CHB][hapmap]
rs2293091	0.85[AFR][1000 genomes]
rs2409632	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs2898242	0.87[CEU][hapmap]
rs3735823	0.96[CEU][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs4840461	0.82[CHB][hapmap]
rs4840462	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs4840463	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs4840464	0.81[CHB][hapmap]
rs4841279	0.91[CEU][hapmap]
rs4841280	0.82[CHB][hapmap]
rs532928	0.84[ASN][1000 genomes]
rs625218	0.80[GIH][hapmap]
rs685218	0.96[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6981546	0.91[CEU][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs6983566	0.96[CEU][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap]
rs6992096	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992152	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997865	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs7008407	0.91[CEU][hapmap]
rs7012221	0.82[CEU][hapmap]
rs7832431	0.87[CEU][hapmap];0.84[TSI][hapmap]
rs7843906	0.82[CHB][hapmap]
rs9329214	0.81[CHB][hapmap]
rs9329215	0.87[CEU][hapmap]
rs936749	0.86[CHB][hapmap]
rs963593	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1023834	chr8:9798072-9904788	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1034165	chr8:9821150-9906812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539465	chr8:9821150-9906812	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv890342	chr8:9864345-9897508	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1521193	MSRA	cis	lymphoblastoid	seeQTL
rs1521193	MFHAS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9889200-9905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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