Variant report

Variant	esv1792539
Chromosome Location	chr7:19008728-19012994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183868185	chr7:19008738-19008739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372394167	chr7:19008767-19008768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572559263	chr7:19008850-19008851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373811226	chr7:19008858-19008859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542851914	chr7:19008939-19008940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78831348	chr7:19008972-19008973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563108571	chr7:19009081-19009082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568345469	chr7:19009164-19009165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188549255	chr7:19009226-19009227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149267653	chr7:19009271-19009272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532406374	chr7:19009280-19009281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547379966	chr7:19009281-19009282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527634858	chr7:19009299-19009300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73307058	chr7:19009315-19009316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144478483	chr7:19009316-19009317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386710918	chr7:19009333-19009334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200919975	chr7:19009336-19009337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548452486	chr7:19009337-19009338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201584037	chr7:19009340-19009341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200180773	chr7:19009343-19009344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567744339	chr7:19009360-19009361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148435619	chr7:19009369-19009370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180696709	chr7:19009414-19009415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143959438	chr7:19009425-19009426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570694327	chr7:19009448-19009449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539618567	chr7:19009449-19009450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554158872	chr7:19009509-19009510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78311920	chr7:19009623-19009624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185036848	chr7:19009634-19009635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6976460	chr7:19009661-19009662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530542640	chr7:19009680-19009681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs993083	chr7:19009704-19009705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543134198	chr7:19009751-19009752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564852339	chr7:19009761-19009762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs993082	chr7:19009810-19009811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189356263	chr7:19009816-19009817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559384092	chr7:19009828-19009829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146425996	chr7:19009830-19009831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531443444	chr7:19009873-19009874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182293293	chr7:19009889-19009890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563491720	chr7:19009932-19009933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200876707	chr7:19009941-19009942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187354605	chr7:19009985-19009986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191695662	chr7:19010007-19010008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571752104	chr7:19010066-19010067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536009789	chr7:19010121-19010122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374933911	chr7:19010145-19010146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183050325	chr7:19010162-19010163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2526641	chr7:19010222-19010223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185547123	chr7:19010271-19010272	Weak transcription	n/a	n/a	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18991400-19025000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18999400-19016400	Weak transcription	HSMM	muscle
3	chr7:19000800-19017600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:19002000-19014000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:19003800-19016400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:19005400-19016800	Weak transcription	Adipose Nuclei	Adipose
7	chr7:19006200-19014200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:19007000-19014400	Weak transcription	NHDF-Ad	bronchial
9	chr7:19011600-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:19011600-19018800	Enhancers	HMEC	breast
11	chr7:19011600-19018800	Enhancers	NHEK	skin
12	chr7:19011800-19015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:19012000-19018600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:19012200-19018600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:19012400-19012600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:19012800-19014000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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