Variant report

Variant	rs569203690
Chromosome Location	chr13:76209406-76209407
allele	G/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	RFX5	chr13:76209267-76210104	HepG2	liver:	n/a	n/a
2	BHLHE40	chr13:76209286-76211225	HepG2	liver:	n/a	chr13:76210232-76210248 chr13:76209876-76209885 chr13:76209876-76209885
3	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
4	POLR2A	chr13:76209399-76211437	Gliobla	brain:	n/a	n/a
5	MAX	chr13:76209217-76211130	HepG2	liver:	n/a	chr13:76209876-76209885 chr13:76209875-76209886
6	POLR2A	chr13:76209248-76211186	HepG2	liver:	n/a	n/a
7	MAX	chr13:76209349-76211239	HepG2	liver:	n/a	chr13:76209876-76209885 chr13:76209875-76209886
8	RCOR1	chr13:76209340-76211147	HepG2	liver:	n/a	n/a
9	CHD2	chr13:76209308-76209928	HepG2	liver:	n/a	chr13:76209566-76209576
10	MAX	chr13:76209392-76211194	HepG2	liver:	n/a	chr13:76209876-76209885 chr13:76209875-76209886
11	POLR2A	chr13:76209207-76212831	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76194856..76197534-chr13:76208958..76210482,2	MCF-7	breast:

Variant related genes	Relation type
LMO7	TF binding region
ENSG00000136153	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1816393	chr13:76207565-76210742	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
2	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr13:76149800-76209600	Weak transcription	Lung	lung
4	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
7	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr13:76190600-76209600	Weak transcription	Brain Angular Gyrus	brain
13	chr13:76192000-76209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:76192600-76209600	Weak transcription	Fetal Intestine Small	intestine
15	chr13:76197000-76209600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr13:76197800-76209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:76199800-76209600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:76200200-76209600	Weak transcription	Primary B cells from cord blood	blood
19	chr13:76200200-76209600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr13:76200200-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:76203200-76209600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:76207600-76209600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:76208000-76211600	Active TSS	Osteobl	bone
24	chr13:76208200-76209600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:76208600-76209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:76208600-76210600	Active TSS	Placenta	Placenta
27	chr13:76208600-76211400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr13:76208600-76211800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:76208600-76215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:76208800-76209600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:76209000-76212000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr13:76209000-76212200	Active TSS	HSMM	muscle
33	chr13:76209000-76214400	Active TSS	NHDF-Ad	bronchial
34	chr13:76209200-76209600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr13:76209200-76209600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr13:76209200-76209600	Active TSS	Adipose Nuclei	Adipose
37	chr13:76209200-76209600	Active TSS	NH-A	brain
38	chr13:76209200-76210000	Flanking Active TSS	HepG2	liver
39	chr13:76209200-76210600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr13:76209200-76211400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr13:76209200-76211600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr13:76209200-76211800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr13:76209200-76212000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:76209200-76212200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr13:76209200-76212200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr13:76209200-76213600	Active TSS	NHLF	lung
47	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
48	chr13:76209400-76209600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:76209400-76209600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:76209400-76209600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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