Variant report

Variant	rs953109
Chromosome Location	chr13:76060322-76060323
allele	C/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	POLR2A	chr13:76060299-76060651	HepG2	liver:	n/a	n/a
2	BACH1	chr13:76059840-76060561	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr13:76059845-76060414	HepG2	liver:	n/a	n/a
4	MAZ	chr13:76060103-76060468	HepG2	liver:	n/a	chr13:76060280-76060290
5	RUNX3	chr13:76060254-76061143	GM12878	blood:	n/a	chr13:76060950-76060959 chr13:76060950-76060959
6	MAFK	chr13:76059872-76060351	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:76053627..76056561-chr13:76059477..76061299,2	K562	blood:
2	chr13:76051274..76054795-chr13:76057453..76061221,3	K562	blood:
3	chr13:76060096..76062427-chr13:76067449..76070144,3	K562	blood:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3812847	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9600477	0.83[JPT][hapmap]

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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76057000-76060400	Weak transcription	K562	blood
2	chr13:76057000-76063400	Weak transcription	Hela-S3	cervix
3	chr13:76057000-76064800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:76057200-76062000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:76057200-76063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:76057200-76063400	Weak transcription	Adipose Nuclei	Adipose
7	chr13:76057400-76060400	Weak transcription	GM12878-XiMat	blood
8	chr13:76057400-76061400	Weak transcription	Liver	Liver
9	chr13:76057400-76063600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:76058400-76060600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:76058600-76063600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:76059000-76060600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:76059000-76060800	Enhancers	NH-A	brain
14	chr13:76059000-76062000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:76059200-76060600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:76059200-76060600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:76059200-76060600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:76059200-76060600	Flanking Active TSS	A549	lung
19	chr13:76059200-76060600	Enhancers	NHEK	skin
20	chr13:76059200-76060800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:76059200-76061000	Enhancers	Osteobl	bone
22	chr13:76059200-76061200	Enhancers	HSMM	muscle
23	chr13:76059200-76061600	Enhancers	HMEC	breast
24	chr13:76059200-76062000	Enhancers	HepG2	liver
25	chr13:76059400-76060400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr13:76059400-76060600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:76059400-76060600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:76059400-76060800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:76059600-76060400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr13:76059600-76060600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:76059600-76060600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:76059600-76060600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:76059800-76060400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr13:76059800-76060600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:76059800-76060600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:76059800-76060800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:76059800-76061000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:76059800-76061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:76059800-76061600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:76060000-76060600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:76060000-76060600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:76060000-76060600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr13:76060000-76061200	Enhancers	HSMMtube	muscle
44	chr13:76060000-76061400	Enhancers	Primary hematopoietic stem cells	blood
45	chr13:76060200-76060400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:76060200-76060600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr13:76060200-76060600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:76060200-76060600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:76060200-76060600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:76060200-76060600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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