Variant report

Variant	rs11785481
Chromosome Location	chr8:11617142-11617143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:11617130-11617180	K562	blood:	n/a	n/a
2	POLR2A	chr8:11617093-11617236	HepG2	liver:	n/a	n/a
3	GTF2F1	chr8:11617128-11617145	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
C8orf49	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1062219	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13250578	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs13281294	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2409814	1.00[JPT][hapmap]
rs2645396	1.00[JPT][hapmap]
rs3729852	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3735819	1.00[JPT][hapmap]
rs6991234	1.00[JPT][hapmap]
rs7006733	1.00[JPT][hapmap]
rs804280	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs804283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs810738	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9644757	1.00[JPT][hapmap]

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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv890359	chr8:11599570-11617240	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11785481	NEIL2	cis	cerebellum	SCAN
rs11785481	CTSB	cis	cerebellum	SCAN
rs11785481	PPP1R3B	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11606200-11617400	Strong transcription	HepG2	liver
2	chr8:11607000-11622800	Weak transcription	Stomach Mucosa	stomach
3	chr8:11608800-11619400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr8:11609200-11618600	Strong transcription	Ovary	ovary
5	chr8:11610200-11618400	Strong transcription	Liver	Liver
6	chr8:11610600-11621200	Strong transcription	Fetal Intestine Small	intestine
7	chr8:11611400-11618000	Strong transcription	Pancreas	Pancrea
8	chr8:11614400-11619200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:11615200-11617600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr8:11615200-11618200	Strong transcription	Gastric	stomach
11	chr8:11615800-11617800	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr8:11615800-11626800	Weak transcription	Left Ventricle	heart
13	chr8:11616200-11617400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:11616400-11617200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:11616600-11617200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:11616600-11617200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:11616600-11617400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:11616800-11617200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:11616800-11617200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr8:11616800-11617200	Enhancers	HSMMtube	muscle
21	chr8:11616800-11617400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:11616800-11617400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:11616800-11617400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:11616800-11617400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr8:11616800-11617400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:11616800-11617400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:11616800-11617400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:11616800-11617400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:11616800-11617400	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr8:11616800-11617400	Genic enhancers	Right Ventricle	heart
31	chr8:11616800-11617800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:11616800-11618400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:11616800-11618600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:11617000-11617200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr8:11617000-11617200	Bivalent Enhancer	Fetal Lung	lung
36	chr8:11617000-11617200	Weak transcription	Right Atrium	heart
37	chr8:11617000-11617400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:11617000-11617400	Enhancers	HSMM	muscle
39	chr8:11617000-11622800	Weak transcription	Fetal Heart	heart
40	chr8:11617000-11623000	Weak transcription	Placenta	Placenta
41	chr8:11617000-11626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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