Variant report

Variant	nsv606281
Chromosome Location	chr7:14388381-14443963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1356 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1356 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12699607	chr7:14388381-14388382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527248857	chr7:14388382-14388383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185512081	chr7:14388401-14388402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573008126	chr7:14388457-14388458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188772877	chr7:14388494-14388495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532840526	chr7:14388529-14388530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149440497	chr7:14388548-14388549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143827732	chr7:14388592-14388593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531917911	chr7:14388616-14388617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193295295	chr7:14388634-14388635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs991355	chr7:14388644-14388645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534148091	chr7:14388645-14388646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184293366	chr7:14388673-14388674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570987594	chr7:14388675-14388676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539936954	chr7:14388681-14388682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188399012	chr7:14388691-14388692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576149738	chr7:14388694-14388695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181167467	chr7:14388728-14388729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138504673	chr7:14388758-14388759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62444571	chr7:14388789-14388790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571725371	chr7:14388794-14388795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540651826	chr7:14388812-14388813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563734062	chr7:14388817-14388818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141540350	chr7:14388879-14388880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546646953	chr7:14388904-14388905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543461794	chr7:14388913-14388914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184234952	chr7:14388938-14388939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17168085	chr7:14388947-14388948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146210648	chr7:14388969-14388970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139248750	chr7:14388983-14388984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188913657	chr7:14389014-14389015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547860245	chr7:14389019-14389020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181731251	chr7:14389028-14389029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112862817	chr7:14389044-14389045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141722831	chr7:14389059-14389060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187155351	chr7:14389087-14389088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10247569	chr7:14389096-14389097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62444572	chr7:14389125-14389126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs369300876	chr7:14389146-14389147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572053763	chr7:14389178-14389179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34916661	chr7:14389212-14389213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62444573	chr7:14389242-14389243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150570801	chr7:14389303-14389304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190345462	chr7:14389334-14389335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543174244	chr7:14389371-14389372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536775975	chr7:14389376-14389377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528963283	chr7:14389418-14389419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542439161	chr7:14389437-14389438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17712742	chr7:14389462-14389463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184987549	chr7:14389481-14389482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14383200-14390800	Weak transcription	Fetal Heart	heart
2	chr7:14390200-14391600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:14390600-14391200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:14390600-14391200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:14390800-14391400	Enhancers	Fetal Heart	heart
6	chr7:14402200-14404600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:14402800-14403400	Enhancers	Fetal Heart	heart
8	chr7:14407800-14408800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:14413600-14415600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:14414000-14414200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:14414000-14415600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:14414200-14415400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:14414200-14416000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:14414200-14416800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:14414400-14414800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:14414400-14415000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:14414400-14415600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:14414400-14416000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:14415200-14415800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:14415800-14416600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:14416000-14416600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:14416200-14417200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:14416400-14416600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:14416400-14416800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:14416400-14416800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:14416600-14416800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:14416600-14417000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr7:14416600-14417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:14416600-14417400	Enhancers	Adipose Nuclei	Adipose
30	chr7:14416600-14417600	Enhancers	Brain Anterior Caudate	brain
31	chr7:14416600-14419000	Enhancers	Osteobl	bone
32	chr7:14416800-14417200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:14417000-14417200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:14417000-14417200	Enhancers	HSMM	muscle
35	chr7:14417000-14417600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:14417200-14417400	Enhancers	NHDF-Ad	bronchial
37	chr7:14417200-14417600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:14417200-14417600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:14417200-14417600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:14417200-14417600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:14417200-14417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:14417200-14417600	Active TSS	Fetal Brain Female	brain
43	chr7:14417200-14417600	Flanking Active TSS	HSMM	muscle
44	chr7:14417200-14417600	Enhancers	HSMMtube	muscle
45	chr7:14417200-14417800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr7:14417200-14418000	Enhancers	NH-A	brain
47	chr7:14417200-14419000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:14417400-14417600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:14417400-14417600	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr7:14417400-14417600	Flanking Active TSS	NHDF-Ad	bronchial

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