Variant report

Variant	rs11921117
Chromosome Location	chr3:47294000-47294001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47293290..47295521-chr3:47352097..47355048,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10490798	0.80[ASN][1000 genomes]
rs1076394	0.85[EUR][1000 genomes]
rs11130123	0.89[EUR][1000 genomes]
rs11130124	0.90[EUR][1000 genomes]
rs11130126	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11710013	0.89[EUR][1000 genomes]
rs11710121	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11710322	0.85[EUR][1000 genomes]
rs11714294	0.83[EUR][1000 genomes]
rs11720439	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11915074	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11920354	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11920853	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11925560	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12715421	0.81[AFR][1000 genomes]
rs13094438	0.81[EUR][1000 genomes]
rs1466740	0.93[AFR][1000 genomes]
rs1466741	0.90[AFR][1000 genomes]
rs1638676	0.85[EUR][1000 genomes]
rs17476234	0.85[EUR][1000 genomes]
rs2088135	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2276853	0.81[EUR][1000 genomes]
rs2276854	0.81[EUR][1000 genomes]
rs295441	0.83[EUR][1000 genomes]
rs295442	0.84[EUR][1000 genomes]
rs4683326	0.89[EUR][1000 genomes]
rs56250009	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57756484	0.86[AFR][1000 genomes]
rs58472056	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61386020	0.85[ASN][1000 genomes]
rs62246455	0.86[AFR][1000 genomes]
rs62248905	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6442055	0.81[AFR][1000 genomes]
rs6767907	0.81[AFR][1000 genomes]
rs6768221	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6773521	0.86[AFR][1000 genomes]
rs6781941	0.86[AFR][1000 genomes]
rs6791842	0.81[EUR][1000 genomes]
rs73069104	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7620997	0.82[AFR][1000 genomes]
rs7632501	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7636423	0.89[EUR][1000 genomes]
rs807935	0.84[EUR][1000 genomes]
rs807936	0.85[EUR][1000 genomes]
rs807937	0.85[EUR][1000 genomes]
rs811115	0.84[EUR][1000 genomes]
rs9844122	0.81[AFR][1000 genomes]
rs9845728	0.83[AFR][1000 genomes]
rs9854790	0.83[AFR][1000 genomes]
rs9858443	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11921117	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs11921117	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47264200-47322200	Weak transcription	Gastric	stomach
2	chr3:47267200-47308000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:47270800-47307800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:47271400-47308000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:47276400-47305200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:47277600-47300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:47282200-47300400	Weak transcription	Fetal Intestine Small	intestine
8	chr3:47282200-47300600	Weak transcription	Lung	lung
9	chr3:47282800-47322400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:47284800-47300400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:47285400-47315800	Weak transcription	Pancreas	Pancrea
12	chr3:47285600-47312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:47286400-47299200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:47287400-47299200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:47293600-47302800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:47293600-47323200	Weak transcription	Spleen	Spleen

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