Variant report

Variant	rs3893215
Chromosome Location	chr11:17764830-17764831
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17755705..17757483-chr11:17762543..17764877,2	K562	blood:

Variant related genes	Relation type
ENSG00000129159	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10444223	0.89[ASN][1000 genomes]
rs10444224	0.89[ASN][1000 genomes]
rs10766435	0.89[ASN][1000 genomes]
rs11024393	0.89[ASN][1000 genomes]
rs16934680	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55686538	0.81[AMR][1000 genomes]
rs56037689	1.00[ASN][1000 genomes]
rs56205256	1.00[ASN][1000 genomes]
rs59267268	1.00[ASN][1000 genomes]
rs6486396	0.89[ASN][1000 genomes]
rs7110441	1.00[ASN][1000 genomes]
rs7114718	1.00[ASN][1000 genomes]
rs7124411	1.00[ASN][1000 genomes]
rs7124999	1.00[ASN][1000 genomes]
rs71457882	0.89[ASN][1000 genomes]
rs73424016	1.00[ASN][1000 genomes]
rs7924746	1.00[ASN][1000 genomes]
rs7926535	1.00[ASN][1000 genomes]
rs7938573	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7942518	0.89[ASN][1000 genomes]
rs917032	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv825772	chr11:17723530-17783128	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1037585	chr11:17730586-17768346	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1038119	chr11:17744915-17794577	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv467718	chr11:17744992-17809724	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv553589	chr11:17744992-17809724	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	esv1793678	chr11:17745099-17786436	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv521511	chr11:17749028-17771487	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv516767	chr11:17758587-17809724	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3893215	NAV2	cis	cerebellum	SCAN
rs3893215	OR8K3	trans	cerebellum	SCAN
rs3893215	DBX1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17757000-17771800	Weak transcription	Right Atrium	heart
2	chr11:17760600-17765600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:17762000-17766000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:17762400-17765000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17762400-17766000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr11:17763400-17765000	Enhancers	Fetal Muscle Leg	muscle
7	chr11:17763400-17779600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:17763600-17765000	Enhancers	Fetal Brain Female	brain
9	chr11:17764000-17780000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:17764200-17769000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:17764800-17765000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:17764800-17765600	Enhancers	Fetal Brain Male	brain
13	chr11:17764800-17765800	Enhancers	HSMMtube	muscle
14	chr11:17764800-17766800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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