Variant report

Variant	nsv887728
Chromosome Location	chr7:15444355-15479473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1674 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1674 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10253669	chr7:15444355-15444356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569639686	chr7:15444388-15444389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149838301	chr7:15444442-15444443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529181326	chr7:15444443-15444444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572702352	chr7:15444457-15444458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145803707	chr7:15444468-15444469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35242791	chr7:15444498-15444499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576717637	chr7:15444536-15444537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9690021	chr7:15444537-15444538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs28547943	chr7:15444553-15444554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375758194	chr7:15444611-15444612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10240275	chr7:15444653-15444654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559843337	chr7:15444657-15444658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187392250	chr7:15444658-15444659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548806583	chr7:15444741-15444742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112610078	chr7:15444766-15444767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375555301	chr7:15444780-15444781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531639099	chr7:15444782-15444783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114408089	chr7:15444825-15444826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149016446	chr7:15444842-15444843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538732371	chr7:15444885-15444886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554289203	chr7:15444886-15444887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566215854	chr7:15444888-15444889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147105966	chr7:15444922-15444923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537661642	chr7:15444935-15444936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555201957	chr7:15444940-15444941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576617848	chr7:15444945-15444946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189695806	chr7:15444958-15444959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138679879	chr7:15445085-15445086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577543390	chr7:15445126-15445127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78243121	chr7:15445129-15445130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141073773	chr7:15445138-15445139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574370843	chr7:15445159-15445160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542367357	chr7:15445187-15445188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180999481	chr7:15445193-15445194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115311718	chr7:15445221-15445222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35755377	chr7:15445236-15445237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146959062	chr7:15445249-15445250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543381660	chr7:15445325-15445326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62439269	chr7:15445335-15445336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547856127	chr7:15445348-15445349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111616756	chr7:15445367-15445368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116264759	chr7:15445382-15445383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148017836	chr7:15445384-15445385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548763864	chr7:15445463-15445464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142900964	chr7:15445486-15445487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11971919	chr7:15445505-15445506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185402301	chr7:15445528-15445529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559186909	chr7:15445557-15445558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572792307	chr7:15445569-15445570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15440600-15454000	Weak transcription	Liver	Liver
2	chr7:15443800-15447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:15444200-15447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:15447000-15448400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:15447000-15448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:15447200-15448600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:15447400-15447800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:15447400-15448400	Enhancers	HUVEC	blood vessel
9	chr7:15454000-15455600	Strong transcription	Liver	Liver
10	chr7:15455000-15455200	ZNF genes & repeats	Aorta	Aorta
11	chr7:15455200-15469800	Weak transcription	Aorta	Aorta
12	chr7:15455600-15456800	Weak transcription	Liver	Liver
13	chr7:15456800-15457400	Genic enhancers	Liver	Liver
14	chr7:15457400-15457600	Enhancers	Liver	Liver
15	chr7:15457600-15461200	Weak transcription	Liver	Liver
16	chr7:15458800-15459400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:15458800-15460400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:15459400-15459600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:15459600-15459800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:15459800-15460000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:15460400-15464000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:15461200-15462600	Strong transcription	Liver	Liver
23	chr7:15462600-15466400	Weak transcription	Liver	Liver
24	chr7:15463400-15465000	Enhancers	Osteobl	bone
25	chr7:15463600-15464600	Enhancers	NHDF-Ad	bronchial
26	chr7:15464000-15464600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:15464600-15469200	Weak transcription	NHDF-Ad	bronchial
28	chr7:15466400-15469800	Strong transcription	Liver	Liver
29	chr7:15468000-15468600	Enhancers	Fetal Lung	lung
30	chr7:15469200-15469600	Enhancers	NHDF-Ad	bronchial
31	chr7:15469800-15489200	Weak transcription	Liver	Liver
32	chr7:15474000-15474200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:15474000-15474200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:15474000-15474200	Enhancers	Adipose Nuclei	Adipose
35	chr7:15474200-15474600	Active TSS	Adipose Nuclei	Adipose
36	chr7:15474200-15474800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:15474200-15474800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:15474600-15475000	Enhancers	Adipose Nuclei	Adipose

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