Variant report

Variant	rs1200618
Chromosome Location	chr11:104599885-104599886
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	chr11:104598989..104600834-chr11:104611335..104614012,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10502037	0.86[ASN][1000 genomes]
rs10502041	0.88[ASN][1000 genomes]
rs10791720	0.83[EUR][1000 genomes]
rs10895711	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10895712	0.86[ASN][1000 genomes]
rs10895713	0.82[ASN][1000 genomes]
rs10895714	0.86[ASN][1000 genomes]
rs10895715	0.83[ASN][1000 genomes]
rs10895719	0.88[ASN][1000 genomes]
rs10895721	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11226445	0.83[ASN][1000 genomes]
rs11226448	0.82[ASN][1000 genomes]
rs11226450	0.86[ASN][1000 genomes]
rs11226451	0.83[EUR][1000 genomes]
rs11226452	0.83[ASN][1000 genomes]
rs11226456	0.82[ASN][1000 genomes]
rs11226457	0.84[ASN][1000 genomes]
rs11226459	0.82[ASN][1000 genomes]
rs11226460	0.82[ASN][1000 genomes]
rs11226469	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11226486	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147010	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1147024	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11601632	0.83[EUR][1000 genomes]
rs11607612	0.83[ASN][1000 genomes]
rs1200613	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1201816	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12364921	0.88[EUR][1000 genomes]
rs12365448	0.92[ASN][1000 genomes]
rs12366152	0.82[ASN][1000 genomes]
rs12418899	0.83[ASN][1000 genomes]
rs12798102	0.90[EUR][1000 genomes]
rs12803710	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16894	0.83[ASN][1000 genomes]
rs17102731	0.83[ASN][1000 genomes]
rs17102776	0.83[ASN][1000 genomes]
rs1942507	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2156127	0.83[ASN][1000 genomes]
rs2187131	0.82[ASN][1000 genomes]
rs2187132	0.86[ASN][1000 genomes]
rs2187135	0.86[ASN][1000 genomes]
rs2226749	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2850817	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56384112	0.82[ASN][1000 genomes]
rs61893228	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61893229	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7927206	0.86[ASN][1000 genomes]
rs7935104	0.86[ASN][1000 genomes]
rs7939905	0.86[ASN][1000 genomes]
rs9666573	0.84[ASN][1000 genomes]
rs9667051	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv832254	chr11:104412769-104607277	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2761706	chr11:104523335-104634024	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1050346	chr11:104548749-104664665	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1200618	CASP12	cis	cerebellum	SCAN
rs1200618	BIRC3	cis	cerebellum	SCAN
rs1200618	CASP4	Cis_1M	lymphoblastoid	RTeQTL
rs1200618	CARD16	cis	cerebellum	SCAN
rs1200618	YAP1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104598800-104602800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:104599000-104602800	Weak transcription	Dnd41	blood

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