Variant report

Variant	rs557644888
Chromosome Location	chr13:76211314-76211315
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	MXI1	chr13:76209606-76212673	IMR90	lung:	n/a	chr13:76211344-76211353
2	EP300	chr13:76209763-76211424	SK-N-SH	brain:	n/a	chr13:76210328-76210344 chr13:76210480-76210496 chr13:76210487-76210503 chr13:76210041-76210057
3	MAX	chr13:76209416-76211328	ECC-1	luminal epithelium:	n/a	chr13:76209876-76209885 chr13:76209875-76209886 chr13:76211308-76211318
4	MAX	chr13:76210203-76211317	SK-N-SH	brain:	n/a	n/a
5	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
6	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
7	SIN3A	chr13:76209702-76211705	H1-hESC	embryonic stem cell:	n/a	chr13:76210489-76210500 chr13:76209968-76209979 chr13:76209987-76209998
8	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
9	POLR2A	chr13:76209948-76211350	IMR90	lung:	n/a	n/a
10	CHD1	chr13:76209769-76213065	IMR90	lung:	n/a	chr13:76211314-76211324 chr13:76210708-76210718
11	POLR2A	chr13:76209399-76211437	Gliobla	brain:	n/a	n/a
12	POLR2A	chr13:76209758-76211336	GM15510	blood:	n/a	n/a
13	POLR2A	chr13:76210841-76211349	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr13:76209410-76211389	ECC-1	luminal epithelium:	n/a	chr13:76209876-76209885 chr13:76209875-76209886 chr13:76211308-76211318
15	POLR2A	chr13:76210388-76211317	SK-N-SH	brain:	n/a	n/a
16	PML	chr13:76210398-76211366	GM12878	blood:	n/a	chr13:76210577-76210585
17	MAX	chr13:76210322-76211317	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr13:76209207-76212831	ProgFib	skin:	n/a	n/a
19	POLR2A	chr13:76210206-76212261	SK-N-MC	brain:	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:114 , 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	chr13:76209600-76211400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:76209600-76211400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr13:76209600-76211400	Active TSS	GM12878-XiMat	blood
27	chr13:76209600-76211600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:76209600-76211600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr13:76209600-76211600	Active TSS	Brain Substantia Nigra	brain
30	chr13:76209600-76211600	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr13:76209600-76211600	Active TSS	Fetal Heart	heart
32	chr13:76209600-76211600	Active TSS	Rectal Smooth Muscle	rectum
33	chr13:76209600-76211800	Active TSS	Thymus	Thymus
34	chr13:76209600-76212400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr13:76209800-76211600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr13:76209800-76211600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
37	chr13:76209800-76211800	Active TSS	Brain Anterior Caudate	brain
38	chr13:76210000-76211400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:76210000-76211800	Active TSS	Brain Hippocampus Middle	brain
40	chr13:76210000-76213400	Active TSS	NH-A	brain
41	chr13:76210000-76214000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:76210200-76212200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:76210400-76211400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr13:76210400-76211600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:76210400-76211600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
46	chr13:76210600-76211400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr13:76210600-76211400	Bivalent/Poised TSS	NHEK	skin
48	chr13:76210600-76211800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr13:76210600-76211800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr13:76210600-76211800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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