Variant report

Variant	rs11865835
Chromosome Location	chr16:31509816-31509817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31509729-31509847	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31509780-31509956	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31489272..31492078-chr16:31509160..31511521,2	K562	blood:
2	chr16:31502081..31506584-chr16:31506817..31510870,6	K562	blood:
3	chr16:31509683..31512243-chr16:31553678..31556301,2	K562	blood:
4	chr16:31508912..31513251-chr16:31517622..31519683,6	MCF-7	breast:
5	chr16:31499178..31501635-chr16:31508142..31511867,5	MCF-7	breast:
6	chr16:31503360..31505398-chr16:31507804..31510782,3	MCF-7	breast:
7	chr16:31508144..31510605-chr16:31709945..31712563,2	MCF-7	breast:
8	chr16:31508750..31511983-chr16:31514394..31516360,3	MCF-7	breast:

No data

Variant related genes	Relation type
C16orf58	TF binding region
ENSG00000140675	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000260568	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11150626	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13143	0.94[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13337037	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs34081766	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3934739	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6565235	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6565236	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7188278	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8062314	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926717	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9934336	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][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	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11865835	FBXL19	cis	cerebellum	SCAN
rs11865835	ARMC5	cis	multi-tissue	Pritchard
rs11865835	SLC5A2	cis	lung	GTEx
rs11865835	AHSP	cis	parietal	SCAN
rs11865835	PRR14	cis	cerebellum	SCAN
rs11865835	INO80E	cis	parietal	SCAN
rs11865835	AC026471.6	cis	lung	GTEx
rs11865835	TAOK2	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31499800-31512200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31499800-31512200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:31499800-31516200	Weak transcription	GM12878-XiMat	blood
4	chr16:31499800-31517200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:31499800-31517400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:31500200-31511400	Weak transcription	NH-A	brain
7	chr16:31500200-31512200	Strong transcription	Fetal Intestine Small	intestine
8	chr16:31500400-31512200	Strong transcription	NHLF	lung
9	chr16:31500400-31514200	Weak transcription	Fetal Heart	heart
10	chr16:31500400-31518000	Weak transcription	Small Intestine	intestine
11	chr16:31500600-31512200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:31500600-31512200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:31500600-31512200	Strong transcription	Fetal Muscle Leg	muscle
14	chr16:31500600-31518200	Weak transcription	Stomach Mucosa	stomach
15	chr16:31500800-31512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:31500800-31512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:31500800-31512000	Strong transcription	Fetal Intestine Large	intestine
18	chr16:31500800-31512200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:31500800-31512200	Strong transcription	Fetal Stomach	stomach
20	chr16:31500800-31512600	Strong transcription	Placenta	Placenta
21	chr16:31501000-31512000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:31501000-31512000	Strong transcription	Brain Anterior Caudate	brain
23	chr16:31501000-31512000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr16:31501000-31512200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:31501000-31512200	Strong transcription	Adipose Nuclei	Adipose
26	chr16:31501000-31512200	Strong transcription	Ovary	ovary
27	chr16:31501000-31512200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr16:31501000-31512200	Strong transcription	Right Ventricle	heart
29	chr16:31501000-31512400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr16:31501200-31511800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:31501200-31512000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:31501200-31512000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr16:31501200-31512000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:31501200-31512200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:31501200-31512200	Strong transcription	Primary T cells from cord blood	blood
36	chr16:31501200-31512200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:31501200-31512200	Strong transcription	Brain Germinal Matrix	brain
38	chr16:31501200-31512200	Strong transcription	Brain Hippocampus Middle	brain
39	chr16:31501200-31512200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr16:31501200-31512200	Strong transcription	Fetal Lung	lung
41	chr16:31501200-31512200	Strong transcription	Pancreas	Pancrea
42	chr16:31501200-31512200	Strong transcription	HepG2	liver
43	chr16:31501200-31512400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:31501200-31513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:31501400-31511400	Strong transcription	Liver	Liver
46	chr16:31501400-31512200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:31501400-31512200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:31501400-31512200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:31501400-31512200	Strong transcription	Thymus	Thymus
50	chr16:31501400-31512400	Strong transcription	Monocytes-CD14+_RO01746	blood

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