Variant report

Variant	rs9565168
Chromosome Location	chr13:76059632-76059633
allele	A/G
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	EP300	chr13:76059361-76060215	A549	lung:	n/a	chr13:76059895-76059902
2	FOS	chr13:76059559-76060091	MCF10A-Er-Src	breast:	n/a	chr13:76059596-76059604
3	SP1	chr13:76059428-76060199	A549	lung:	n/a	n/a
4	TCF12	chr13:76059282-76060163	A549	lung:	n/a	n/a
5	EP300	chr13:76059517-76059740	SK-N-SH_RA	brain:	n/a	n/a
6	FOSL1	chr13:76059282-76060257	HCT-116	colon:	n/a	chr13:76059596-76059604
7	FOSL2	chr13:76059361-76059928	A549	lung:	n/a	chr13:76059596-76059604
8	JUND	chr13:76059360-76060303	HCT-116	colon:	n/a	chr13:76059596-76059604
9	JUND	chr13:76059349-76060316	HCT-116	colon:	n/a	chr13:76059596-76059604
10	RUNX3	chr13:76059366-76059757	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76053627..76056561-chr13:76059477..76061299,2	K562	blood:
2	chr13:76051274..76054795-chr13:76057453..76061221,3	K562	blood:

Variant related genes	Relation type
TBC1D4	TF binding region
ENSG00000136111	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1323691	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs1570539	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1570540	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1570541	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328945	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328946	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328947	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4142591	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60343330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6562896	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7318786	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7989804	0.81[ASN][1000 genomes]
rs9318349	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9543946	0.94[ASN][1000 genomes]
rs9543947	0.82[ASN][1000 genomes]
rs9565164	0.80[ASN][1000 genomes]
rs9565165	0.83[CHB][hapmap];0.86[ASN][1000 genomes]
rs9565170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573544	0.80[ASN][1000 genomes]
rs9573545	0.80[ASN][1000 genomes]
rs9573546	0.80[ASN][1000 genomes]
rs9573547	0.80[ASN][1000 genomes]
rs9573553	0.80[ASN][1000 genomes]
rs9573560	0.82[ASN][1000 genomes]
rs9573562	0.83[ASN][1000 genomes]
rs9573563	0.81[ASN][1000 genomes]
rs9573566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9573567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9573570	0.90[CHD][hapmap]
rs9573571	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs961631	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9634999	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76056800-76060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:76056800-76060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:76056800-76060200	Weak transcription	Pancreas	Pancrea
4	chr13:76057000-76059800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:76057000-76060200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:76057000-76060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:76057000-76060400	Weak transcription	K562	blood
8	chr13:76057000-76063400	Weak transcription	Hela-S3	cervix
9	chr13:76057000-76064800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:76057200-76059800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr13:76057200-76059800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:76057200-76059800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:76057200-76060000	Weak transcription	HSMMtube	muscle
14	chr13:76057200-76060200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:76057200-76062000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:76057200-76063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:76057200-76063400	Weak transcription	Adipose Nuclei	Adipose
18	chr13:76057400-76059800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:76057400-76059800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:76057400-76060000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:76057400-76060000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:76057400-76060200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:76057400-76060400	Weak transcription	GM12878-XiMat	blood
24	chr13:76057400-76061400	Weak transcription	Liver	Liver
25	chr13:76057400-76063600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:76057600-76060000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:76058000-76059800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:76058400-76060600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:76058600-76060200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:76058600-76060200	Weak transcription	Right Atrium	heart
31	chr13:76058600-76063600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:76059000-76060600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:76059000-76060800	Enhancers	NH-A	brain
34	chr13:76059000-76062000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr13:76059200-76060600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:76059200-76060600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:76059200-76060600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:76059200-76060600	Flanking Active TSS	A549	lung
39	chr13:76059200-76060600	Enhancers	NHEK	skin
40	chr13:76059200-76060800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:76059200-76061000	Enhancers	Osteobl	bone
42	chr13:76059200-76061200	Enhancers	HSMM	muscle
43	chr13:76059200-76061600	Enhancers	HMEC	breast
44	chr13:76059200-76062000	Enhancers	HepG2	liver
45	chr13:76059400-76059800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:76059400-76060400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr13:76059400-76060600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:76059400-76060600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:76059400-76060800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:76059600-76060400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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