Variant report

Variant	rs376638247
Chromosome Location	chr13:76211163-76211164
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	STAT5A	chr13:76210454-76211164	GM12878	blood:	n/a	chr13:76210879-76210890
2	ZEB1	chr13:76210578-76211281	GM12878	blood:	n/a	n/a
3	CTCF	chr13:76211100-76211250	GM12873	blood:	n/a	n/a
4	POLR2A	chr13:76209759-76211292	ECC-1	luminal epithelium:	n/a	n/a
5	MXI1	chr13:76209606-76212673	IMR90	lung:	n/a	chr13:76211344-76211353
6	POLR2A	chr13:76209890-76211232	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr13:76209713-76211295	GM18505	blood:	n/a	n/a
8	EP300	chr13:76209763-76211424	SK-N-SH	brain:	n/a	chr13:76210328-76210344 chr13:76210480-76210496 chr13:76210487-76210503 chr13:76210041-76210057
9	BHLHE40	chr13:76209286-76211225	HepG2	liver:	n/a	chr13:76210232-76210248 chr13:76209876-76209885 chr13:76209876-76209885
10	POLR2A	chr13:76209737-76211304	GM12892	blood:	n/a	n/a
11	MAX	chr13:76209416-76211328	ECC-1	luminal epithelium:	n/a	chr13:76209876-76209885 chr13:76209875-76209886 chr13:76211308-76211318
12	POLR2A	chr13:76210162-76211302	U87	brain:	n/a	n/a
13	MAX	chr13:76210203-76211317	SK-N-SH	brain:	n/a	n/a
14	MAX	chr13:76210303-76211990	H1-hESC	embryonic stem cell:	n/a	chr13:76211758-76211765 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766 chr13:76211308-76211318
15	POLR2A	chr13:76209539-76211273	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr13:76210342-76211293	GM12878	blood:	n/a	n/a
17	POLR2A	chr13:76209569-76211298	ECC-1	luminal epithelium:	n/a	n/a
18	RUNX3	chr13:76209471-76211208	GM12878	blood:	n/a	n/a
19	SMARCB1	chr13:76209824-76211304	Hela-S3	cervix:	n/a	n/a
20	MAX	chr13:76210475-76211189	GM12878	blood:	n/a	n/a
21	CTBP2	chr13:76210449-76211292	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr13:76210204-76211243	GM12891	blood:	n/a	n/a
23	CHD2	chr13:76211066-76211232	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr13:76210858-76211246	GM12878	blood:	n/a	n/a
25	E2F6	chr13:76209388-76211970	H1-hESC	embryonic stem cell:	n/a	chr13:76211315-76211324 chr13:76209728-76209740 chr13:76209983-76209995 chr13:76209839-76209848 chr13:76210032-76210041 chr13:76209560-76209572 chr13:76209568-76209577 chr13:76211075-76211084 chr13:76209408-76209415
26	TAF1	chr13:76210377-76211308	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3A	chr13:76209702-76211705	H1-hESC	embryonic stem cell:	n/a	chr13:76210489-76210500 chr13:76209968-76209979 chr13:76209987-76209998
28	POLR2A	chr13:76209715-76211311	GM19193	blood:	n/a	n/a
29	EP300	chr13:76209458-76211292	ECC-1	luminal epithelium:	n/a	chr13:76210328-76210344 chr13:76210480-76210496 chr13:76210487-76210503 chr13:76210041-76210057
30	MAZ	chr13:76209603-76212074	IMR90	lung:	n/a	chr13:76209876-76209885 chr13:76211758-76211765 chr13:76209875-76209886 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766 chr13:76211308-76211318
31	MAZ	chr13:76209659-76211180	HepG2	liver:	n/a	chr13:76209876-76209885 chr13:76209875-76209886
32	POLR2A	chr13:76209948-76211350	IMR90	lung:	n/a	n/a
33	MTA3	chr13:76210407-76211310	GM12878	blood:	n/a	n/a
34	TCF12	chr13:76209498-76211308	ECC-1	luminal epithelium:	n/a	chr13:76210009-76210016
35	MTA3	chr13:76210557-76211214	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr13:76210859-76211247	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr13:76210084-76211283	GM12878	blood:	n/a	n/a
38	CHD1	chr13:76209769-76213065	IMR90	lung:	n/a	chr13:76211314-76211324 chr13:76210708-76210718
39	POLR2A	chr13:76209399-76211437	Gliobla	brain:	n/a	n/a
40	POLR2A	chr13:76209806-76211301	GM12892	blood:	n/a	n/a
41	ZEB1	chr13:76210951-76211238	GM12878	blood:	n/a	n/a
42	POLR2A	chr13:76209248-76211186	HepG2	liver:	n/a	n/a
43	POLR2A	chr13:76209754-76211289	GM12878	blood:	n/a	n/a
44	POLR2A	chr13:76209758-76211336	GM15510	blood:	n/a	n/a
45	MAX	chr13:76209349-76211239	HepG2	liver:	n/a	chr13:76209876-76209885 chr13:76209875-76209886
46	POLR2A	chr13:76210841-76211349	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr13:76209410-76211389	ECC-1	luminal epithelium:	n/a	chr13:76209876-76209885 chr13:76209875-76209886 chr13:76211308-76211318
48	EGR1	chr13:76210987-76211215	GM12878	blood:	n/a	chr13:76211075-76211085 chr13:76211074-76211084
49	CHD2	chr13:76210660-76211179	HepG2	liver:	n/a	chr13:76210708-76210718
50	MYC	chr13:76211110-76211181	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76210811..76212641-chr13:76212952..76214964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261105	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv976062	chr13:76206320-76211659	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3425803	chr13:76208851-76211849	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1836179	chr13:76209779-76211623	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1838622	chr13:76209779-76211623	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76208000-76211600	Active TSS	Osteobl	bone
2	chr13:76208600-76211400	Active TSS	Muscle Satellite Cultured Cells	--
3	chr13:76208600-76211800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:76208600-76215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:76209000-76212000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr13:76209000-76212200	Active TSS	HSMM	muscle
7	chr13:76209000-76214400	Active TSS	NHDF-Ad	bronchial
8	chr13:76209200-76211400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr13:76209200-76211600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr13:76209200-76211800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr13:76209200-76212000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:76209200-76212200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr13:76209200-76212200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr13:76209200-76213600	Active TSS	NHLF	lung
15	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
16	chr13:76209400-76211400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr13:76209400-76211400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:76209400-76211600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr13:76209400-76211600	Active TSS	Ovary	ovary
20	chr13:76209400-76211800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:76209400-76211800	Active TSS	Fetal Lung	lung
22	chr13:76209400-76212000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:76209400-76212200	Active TSS	Aorta	Aorta
24	chr13:76209600-76211200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr13:76209600-76211200	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr13:76209600-76211200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:76209600-76211200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:76209600-76211200	Active TSS	A549	lung
29	chr13:76209600-76211400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:76209600-76211400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr13:76209600-76211400	Active TSS	GM12878-XiMat	blood
32	chr13:76209600-76211600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:76209600-76211600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr13:76209600-76211600	Active TSS	Brain Substantia Nigra	brain
35	chr13:76209600-76211600	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr13:76209600-76211600	Active TSS	Fetal Heart	heart
37	chr13:76209600-76211600	Active TSS	Rectal Smooth Muscle	rectum
38	chr13:76209600-76211800	Active TSS	Thymus	Thymus
39	chr13:76209600-76212400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr13:76209800-76211200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr13:76209800-76211600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr13:76209800-76211600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr13:76209800-76211800	Active TSS	Brain Anterior Caudate	brain
44	chr13:76210000-76211200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:76210000-76211200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:76210000-76211200	Active TSS	Gastric	stomach
47	chr13:76210000-76211400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:76210000-76211800	Active TSS	Brain Hippocampus Middle	brain
49	chr13:76210000-76213400	Active TSS	NH-A	brain
50	chr13:76210000-76214000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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