Variant report

Variant	rs147464189
Chromosome Location	chr13:79979233-79979234
allele	A/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	PML	chr13:79978947-79981124	GM12878	blood:	n/a	n/a
2	BCLAF1	chr13:79979128-79980953	GM12878	blood:	n/a	n/a
3	MXI1	chr13:79979220-79979543	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr13:79979203-79981108	HL-60	blood:	n/a	n/a
5	POLR2A	chr13:79979198-79981065	GM18505	blood:	n/a	n/a
6	RUNX3	chr13:79979065-79979979	GM12878	blood:	n/a	chr13:79979193-79979208
7	POLR2A	chr13:79979102-79981045	GM12891	blood:	n/a	n/a
8	STAT3	chr13:79979154-79979259	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr13:79978999-79980991	GM18951	blood:	n/a	n/a
10	POLR2A	chr13:79979187-79981051	HepG2	liver:	n/a	n/a
11	TCF12	chr13:79979208-79979461	GM12878	blood:	n/a	n/a
12	POLR2A	chr13:79979195-79981340	GM12878	blood:	n/a	n/a
13	POLR2A	chr13:79979031-79981704	HepG2	liver:	n/a	n/a
14	MYC	chr13:79979202-79981041	K562	blood:	n/a	n/a
15	POLR2A	chr13:79979159-79981096	GM12878	blood:	n/a	n/a
16	EGR1	chr13:79979200-79979438	GM12878	blood:	n/a	chr13:79979301-79979311 chr13:79979300-79979311 chr13:79979299-79979313 chr13:79979300-79979314 chr13:79979299-79979312 chr13:79979300-79979311 chr13:79979299-79979312 chr13:79979301-79979311
17	RCOR1	chr13:79979212-79979505	K562	blood:	n/a	n/a
18	MAX	chr13:79979197-79980960	Hela-S3	cervix:	n/a	n/a
19	MAX	chr13:79979197-79980958	HepG2	liver:	n/a	n/a
20	TCF12	chr13:79979227-79979450	GM12878	blood:	n/a	n/a
21	POLR2A	chr13:79979199-79979498	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr13:79979213-79981049	HepG2	liver:	n/a	n/a
23	POLR2A	chr13:79979193-79981187	IMR90	lung:	n/a	n/a
24	POLR2A	chr13:79979039-79981111	GM12892	blood:	n/a	n/a
25	POLR2A	chr13:79979115-79981057	GM12891	blood:	n/a	n/a
26	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
27	TAF1	chr13:79979168-79979538	GM12878	blood:	n/a	n/a
28	TAF1	chr13:79979213-79979491	Hela-S3	cervix:	n/a	n/a
29	MYC	chr13:79979207-79980925	K562	blood:	n/a	n/a
30	HCFC1	chr13:79979137-79981082	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr13:79979180-79981075	Hela-S3	cervix:	n/a	n/a
32	MYC	chr13:79979212-79981015	NB4	blood:	n/a	n/a
33	MAX	chr13:79979226-79979597	K562	blood:	n/a	n/a
34	MTA3	chr13:79979088-79981036	GM12878	blood:	n/a	n/a
35	POLR2A	chr13:79979210-79979928	K562	blood:	n/a	n/a
36	MYC	chr13:79979099-79981606	MCF10A-Er-Src	breast:	n/a	n/a
37	WRNIP1	chr13:79979173-79979897	GM12878	blood:	n/a	n/a
38	ZNF143	chr13:79979194-79979270	K562	blood:	n/a	n/a
39	STAT1	chr13:79979143-79980984	GM12878	blood:	n/a	n/a
40	BHLHE40	chr13:79979184-79980860	GM12878	blood:	n/a	n/a
41	POLR2A	chr13:79979168-79982244	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr13:79979150-79979468	MCF10A-Er-Src	breast:	n/a	n/a
43	TBP	chr13:79979138-79981078	K562	blood:	n/a	n/a
44	TCF3	chr13:79979217-79979414	GM12878	blood:	n/a	chr13:79979338-79979347
45	POLR2A	chr13:79979095-79981064	GM19099	blood:	n/a	n/a
46	ATF2	chr13:79979138-79979720	GM12878	blood:	n/a	n/a
47	POLR2A	chr13:79979178-79981203	H1-hESC	embryonic stem cell:	n/a	n/a
48	EGR1	chr13:79979140-79979395	K562	blood:	n/a	chr13:79979301-79979311 chr13:79979300-79979311 chr13:79979299-79979313 chr13:79979300-79979314 chr13:79979299-79979312 chr13:79979300-79979311 chr13:79979299-79979312 chr13:79979301-79979311
49	MXI1	chr13:79979210-79979619	GM12878	blood:	n/a	n/a
50	RELA	chr13:79979155-79980907	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79962105..79964858-chr13:79978684..79980490,2	K562	blood:
2	chr13:79979196..79982246-chr13:80054691..80057070,3	MCF-7	breast:

Variant related genes	Relation type
RBM26-AS1	TF binding region
ENSG00000232132	Chromatin interaction
ENSG00000252496	Chromatin interaction
ENSG00000102471	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3336073	chr13:79979151-79981199	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79975800-79979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:79976600-79979400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr13:79976600-79981600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:79976800-79979400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:79977000-79979400	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr13:79977000-79981400	Active TSS	GM12878-XiMat	blood
8	chr13:79977200-79979400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:79977200-79979400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:79977200-79979400	Flanking Active TSS	HUVEC	blood vessel
11	chr13:79977200-79979600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr13:79977200-79980000	Active TSS	Right Atrium	heart
13	chr13:79977400-79979400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr13:79977400-79979400	Flanking Active TSS	Fetal Heart	heart
15	chr13:79977400-79979600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:79977400-79979600	Flanking Active TSS	Fetal Lung	lung
17	chr13:79977400-79980800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr13:79977400-79981400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr13:79977600-79979400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr13:79977600-79979600	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr13:79977600-79979800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr13:79977600-79979800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr13:79977800-79979400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr13:79977800-79979400	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr13:79977800-79979400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr13:79977800-79979400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr13:79977800-79979800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:79977800-79979800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr13:79977800-79981200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:79977800-79981200	Active TSS	Fetal Intestine Small	intestine
31	chr13:79978000-79981000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr13:79978000-79981400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr13:79978000-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:79978000-79981600	Active TSS	Colonic Mucosa	Colon
35	chr13:79978200-79979400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr13:79978200-79979800	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr13:79978200-79981600	Active TSS	A549	lung
38	chr13:79978400-79979400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr13:79978400-79979400	Flanking Active TSS	Liver	Liver
40	chr13:79978400-79981000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:79978400-79981200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:79978400-79981200	Active TSS	Right Ventricle	heart
43	chr13:79978400-79981600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:79978400-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:79978600-79979600	Active TSS	HepG2	liver
46	chr13:79978600-79980800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:79978600-79981000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:79978600-79981000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr13:79978600-79981000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr13:79978600-79981000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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