Variant report

Variant	rs11640391
Chromosome Location	chr16:80185898-80185899
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	chr12:14926673..14928869-chr16:80184118..80186587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246705	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11150248	0.84[ASN][1000 genomes]
rs11150249	0.84[ASN][1000 genomes]
rs11642380	0.84[JPT][hapmap]
rs11642712	0.85[CEU][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap]
rs11866127	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12926031	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12926639	0.81[EUR][1000 genomes]
rs12928265	0.83[EUR][1000 genomes]
rs1478504	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17727704	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2008481	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4300652	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7191912	0.84[ASN][1000 genomes]
rs7193739	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8060188	0.85[CEU][hapmap]
rs9935498	0.81[GIH][hapmap];0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11640391	VAT1L	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80183600-80186600	Enhancers	Ovary	ovary
2	chr16:80183800-80186600	Enhancers	Fetal Muscle Leg	muscle
3	chr16:80184000-80186600	Enhancers	Osteobl	bone
4	chr16:80184200-80186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:80184200-80186600	Enhancers	HSMMtube	muscle
6	chr16:80184200-80186600	Enhancers	NHDF-Ad	bronchial
7	chr16:80184400-80186600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:80184400-80186600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:80184400-80186600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:80184600-80186400	Enhancers	NH-A	brain
11	chr16:80184800-80186000	Enhancers	Colon Smooth Muscle	Colon
12	chr16:80184800-80186600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr16:80184800-80186600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr16:80185000-80186400	Enhancers	Adipose Nuclei	Adipose
15	chr16:80185000-80186600	Enhancers	Duodenum Mucosa	Duodenum
16	chr16:80185000-80186600	Enhancers	HSMM	muscle
17	chr16:80185200-80186400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr16:80185200-80186400	Enhancers	Small Intestine	intestine
19	chr16:80185200-80186600	Enhancers	Fetal Intestine Large	intestine
20	chr16:80185200-80186600	Enhancers	Fetal Intestine Small	intestine
21	chr16:80185400-80186400	Enhancers	HUVEC	blood vessel
22	chr16:80185600-80186200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:80185600-80186400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:80185600-80186400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr16:80185800-80186000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:80185800-80186200	Enhancers	Fetal Lung	lung
27	chr16:80185800-80186600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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