Variant report

Variant	esv2762657
Chromosome Location	chr7:19178075-19180700
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	MAFK	chr7:19180684-19180875	HepG2	liver:	n/a	n/a
2	MAFK	chr7:19180205-19180356	HepG2	liver:	n/a	chr7:19180239-19180250 chr7:19180238-19180253 chr7:19180239-19180250 chr7:19180237-19180251
3	MAFK	chr7:19180165-19180399	HepG2	liver:	n/a	chr7:19180239-19180250 chr7:19180238-19180253 chr7:19180239-19180250 chr7:19180237-19180251
4	TCF7L2	chr7:19179256-19179855	PANC-1	pancreas:	n/a	chr7:19179593-19179609 chr7:19179726-19179735 chr7:19179593-19179609 chr7:19179363-19179377 chr7:19179594-19179608

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19164726..19167634-chr7:19176686..19178206,2	K562	blood:

Variant related genes	Relation type
ENSG00000229533	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578066513	chr7:19178205-19178206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs150171823	chr7:19178241-19178242	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183486051	chr7:19178247-19178248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560753749	chr7:19178254-19178255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527956764	chr7:19178265-19178266	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs75753696	chr7:19178275-19178276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138575176	chr7:19178311-19178312	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs149298989	chr7:19178354-19178355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11979718	chr7:19178542-19178543	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377758674	chr7:19178582-19178583	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs78492099	chr7:19179257-19179258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs75599163	chr7:19179263-19179264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs79180391	chr7:19179311-19179312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs547090069	chr7:19179312-19179313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373183381	chr7:19179321-19179322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113353588	chr7:19179410-19179411	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565292846	chr7:19179417-19179418	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529697225	chr7:19179439-19179440	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs532649793	chr7:19179442-19179443	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs35048040	chr7:19179492-19179493	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548461335	chr7:19179520-19179521	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574796101	chr7:19179543-19179544	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111230116	chr7:19179574-19179575	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537233270	chr7:19179592-19179593	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs143810064	chr7:19179602-19179603	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs535738114	chr7:19179620-19179621	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562713132	chr7:19179627-19179628	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147253813	chr7:19179636-19179637	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78803669	chr7:19179677-19179678	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs572464230	chr7:19179723-19179724	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs542704033	chr7:19179724-19179725	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555223910	chr7:19179739-19179740	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs185355148	chr7:19179741-19179742	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs548707043	chr7:19179779-19179780	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs544114461	chr7:19179804-19179805	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs80352452	chr7:19179825-19179826	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs557668342	chr7:19179843-19179844	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs532573481	chr7:19179859-19179860	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79038426	chr7:19179868-19179869	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367869751	chr7:19179876-19179877	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117545517	chr7:19179924-19179925	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558839418	chr7:19179938-19179939	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547910343	chr7:19179949-19179950	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563312601	chr7:19179989-19179990	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552504199	chr7:19180174-19180175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs570620043	chr7:19180178-19180179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs181299892	chr7:19180179-19180180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547911477	chr7:19180271-19180272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs566208028	chr7:19180281-19180282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs140726920	chr7:19180297-19180298	Inactive region	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19178200-19178600	Active TSS	Osteobl	bone
2	chr7:19179400-19179600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:19179400-19180000	Enhancers	HSMM	muscle
4	chr7:19179400-19180000	Enhancers	HSMMtube	muscle
5	chr7:19179800-19180000	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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