Variant report

Variant	rs139310372
Chromosome Location	chr13:79979164-79979165
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	PML	chr13:79978947-79981124	GM12878	blood:	n/a	n/a
2	BCLAF1	chr13:79979128-79980953	GM12878	blood:	n/a	n/a
3	RUNX3	chr13:79979065-79979979	GM12878	blood:	n/a	chr13:79979193-79979208
4	POLR2A	chr13:79979102-79981045	GM12891	blood:	n/a	n/a
5	STAT3	chr13:79979154-79979259	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr13:79978999-79980991	GM18951	blood:	n/a	n/a
7	POLR2A	chr13:79979031-79981704	HepG2	liver:	n/a	n/a
8	POLR2A	chr13:79979159-79981096	GM12878	blood:	n/a	n/a
9	POLR2A	chr13:79979039-79981111	GM12892	blood:	n/a	n/a
10	POLR2A	chr13:79979115-79981057	GM12891	blood:	n/a	n/a
11	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
12	HCFC1	chr13:79979137-79981082	Hela-S3	cervix:	n/a	n/a
13	MTA3	chr13:79979088-79981036	GM12878	blood:	n/a	n/a
14	MYC	chr13:79979099-79981606	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT1	chr13:79979143-79980984	GM12878	blood:	n/a	n/a
16	FOS	chr13:79979150-79979468	MCF10A-Er-Src	breast:	n/a	n/a
17	TBP	chr13:79979138-79981078	K562	blood:	n/a	n/a
18	POLR2A	chr13:79979095-79981064	GM19099	blood:	n/a	n/a
19	ATF2	chr13:79979138-79979720	GM12878	blood:	n/a	n/a
20	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
21	RELA	chr13:79979155-79980907	GM15510	blood:	n/a	n/a
22	POLR2A	chr13:79978483-79982627	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr13:79979033-79981086	SK-N-MC	brain:	n/a	n/a
24	BRCA1	chr13:79979138-79981564	Hela-S3	cervix:	n/a	n/a
25	REST	chr13:79979109-79981086	HL-60	blood:	n/a	n/a
26	RUNX3	chr13:79979115-79980069	GM12878	blood:	n/a	chr13:79979193-79979208
27	E2F4	chr13:79979126-79979472	MCF10A-Er-Src	breast:	n/a	chr13:79979308-79979315 chr13:79979304-79979316 chr13:79979308-79979315 chr13:79979308-79979315
28	MAX	chr13:79979091-79979643	HepG2	liver:	n/a	n/a
29	CHD1	chr13:79979149-79981212	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr13:79979111-79981107	GM12878	blood:	n/a	n/a
31	MYC	chr13:79978921-79981048	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr13:79979125-79981041	GM12892	blood:	n/a	n/a
33	MXI1	chr13:79978541-79979545	Hela-S3	cervix:	n/a	n/a
34	CHD1	chr13:79979001-79980975	GM12878	blood:	n/a	n/a
35	NFIC	chr13:79979123-79979898	GM12878	blood:	n/a	n/a
36	POLR2A	chr13:79979142-79981045	GM12892	blood:	n/a	n/a
37	EP300	chr13:79979144-79979734	GM12878	blood:	n/a	n/a
38	ATF2	chr13:79979112-79979543	GM12878	blood:	n/a	n/a
39	TBP	chr13:79979147-79979935	Hela-S3	cervix:	n/a	n/a
40	MAX	chr13:79979072-79981090	A549	lung:	n/a	n/a
41	POLR2A	chr13:79979158-79982018	GM12878	blood:	n/a	n/a
42	POLR2A	chr13:79979148-79981108	GM12892	blood:	n/a	n/a
43	BCLAF1	chr13:79979143-79980134	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79962105..79964858-chr13:79978684..79980490,2	K562	blood:

Variant related genes	Relation type
RBM26-AS1	TF binding region
ENSG00000252496	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	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
2	chr13:79968400-79979200	Weak transcription	Lung	lung
3	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:79971400-79979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:79974600-79979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:79975800-79979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:79976600-79979400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr13:79976600-79981600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:79976800-79979200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr13:79976800-79979400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:79977000-79979400	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr13:79977000-79981400	Active TSS	GM12878-XiMat	blood
14	chr13:79977200-79979400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:79977200-79979400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:79977200-79979400	Flanking Active TSS	HUVEC	blood vessel
17	chr13:79977200-79979600	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr13:79977200-79980000	Active TSS	Right Atrium	heart
19	chr13:79977400-79979400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr13:79977400-79979400	Flanking Active TSS	Fetal Heart	heart
21	chr13:79977400-79979600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:79977400-79979600	Flanking Active TSS	Fetal Lung	lung
23	chr13:79977400-79980800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr13:79977400-79981400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr13:79977600-79979200	Enhancers	Small Intestine	intestine
26	chr13:79977600-79979400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr13:79977600-79979600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr13:79977600-79979800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr13:79977600-79979800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr13:79977800-79979200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr13:79977800-79979200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr13:79977800-79979400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr13:79977800-79979400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr13:79977800-79979400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr13:79977800-79979400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr13:79977800-79979800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:79977800-79979800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr13:79977800-79981200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr13:79977800-79981200	Active TSS	Fetal Intestine Small	intestine
40	chr13:79978000-79979200	Flanking Active TSS	Fetal Brain Male	brain
41	chr13:79978000-79981000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr13:79978000-79981400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr13:79978000-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:79978000-79981600	Active TSS	Colonic Mucosa	Colon
45	chr13:79978200-79979200	Active TSS	Primary T cells fromperipheralblood	blood
46	chr13:79978200-79979400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr13:79978200-79979800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr13:79978200-79981600	Active TSS	A549	lung
49	chr13:79978400-79979200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:79978400-79979200	Flanking Active TSS	Dnd41	blood

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