Variant report

Variant	esv1979988
Chromosome Location	chr7:19155769-19155770
allele	n/a
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	BACH1	chr7:19155559-19156240	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr7:19155676-19158995	SK-N-SH	brain:	n/a	chr7:19157558-19157574 chr7:19155896-19155905 chr7:19157535-19157544
3	GABPA	chr7:19155752-19156060	A549	lung:	n/a	n/a
4	GABPA	chr7:19155732-19156108	HL-60	blood:	n/a	n/a
5	GATA2	chr7:19155461-19156632	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:19155221-19156611	SK-N-SH	brain:	n/a	n/a
7	MAZ	chr7:19155355-19158174	IMR90	lung:	n/a	chr7:19155768-19155778
8	MXI1	chr7:19143470-19162161	SK-N-SH	brain:	n/a	chr7:19158827-19158836 chr7:19158829-19158838 chr7:19158827-19158836
9	MXI1	chr7:19155371-19157892	IMR90	lung:	n/a	n/a
10	MYC	chr7:19155763-19155948	MCF10A-Er-Src	breast:	n/a	chr7:19155768-19155778
11	POLR2A	chr7:19155384-19157737	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr7:19155284-19156706	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr7:19155208-19156651	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr7:19148578-19157399	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr7:19155705-19158177	IMR90	lung:	n/a	n/a
16	POLR2A	chr7:19144858-19156661	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr7:19155189-19156034	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:19154659-19157440	H1-neurons	neurons:	n/a	n/a
19	RAD21	chr7:19155507-19156488	IMR90	lung:	n/a	n/a
20	REST	chr7:19155701-19156235	SK-N-SH	brain:	n/a	n/a
21	REST	chr7:19155702-19156705	SK-N-SH	brain:	n/a	n/a
22	SIN3AK20	chr7:19155320-19156672	SK-N-SH	brain:	n/a	n/a
23	SPI1	chr7:19155642-19156170	HL-60	blood:	n/a	chr7:19155918-19155931 chr7:19155894-19155907 chr7:19155896-19155905 chr7:19155897-19155904 chr7:19155893-19155906
24	TAF1	chr7:19155595-19156175	SK-N-SH	brain:	n/a	n/a
25	TAF1	chr7:19155425-19156640	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000236536	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 84 )

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	rs575838997	chr7:19155769-19155770	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138390369	chr7:19155770-19155771	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19150800-19157200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:19151800-19158800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:19153200-19155800	Active TSS	Adipose Nuclei	Adipose
4	chr7:19153600-19158600	Active TSS	Right Atrium	heart
5	chr7:19153800-19158000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:19154000-19156000	Active TSS	Placenta	Placenta
7	chr7:19154000-19157800	Active TSS	NHLF	lung
8	chr7:19154000-19158000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:19154000-19158600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:19154000-19159000	Active TSS	HSMM	muscle
11	chr7:19154200-19158200	Active TSS	Aorta	Aorta
12	chr7:19154600-19156000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:19154800-19157800	Active TSS	NH-A	brain
14	chr7:19154800-19158200	Active TSS	HSMMtube	muscle
15	chr7:19155000-19155800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:19155000-19157400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:19155000-19158400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:19155000-19158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:19155200-19156000	Active TSS	HMEC	breast
20	chr7:19155200-19158400	Active TSS	Osteobl	bone
21	chr7:19155200-19158600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:19155200-19159800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:19155400-19155800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:19155400-19155800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:19155400-19155800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:19155400-19155800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr7:19155400-19156000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:19155400-19156000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr7:19155400-19156000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr7:19155400-19156000	Active TSS	Right Ventricle	heart
31	chr7:19155400-19156200	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr7:19155400-19156600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr7:19155400-19156600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr7:19155400-19156600	Bivalent/Poised TSS	A549	lung
35	chr7:19155400-19157800	Active TSS	Ovary	ovary
36	chr7:19155400-19158000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:19155400-19158000	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr7:19155400-19158200	Bivalent/Poised TSS	Fetal Kidney	kidney
39	chr7:19155400-19158400	Bivalent/Poised TSS	NHEK	skin
40	chr7:19155600-19155800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:19155600-19155800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr7:19155600-19155800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:19155600-19155800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:19155600-19155800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:19155600-19155800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
46	chr7:19155600-19155800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
47	chr7:19155600-19155800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr7:19155600-19156000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:19155600-19156000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr7:19155600-19156000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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