Variant report

Variant	nsv519937
Chromosome Location	chr6:117517870-117528651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 395 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4946241	chr6:117517870-117517871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370275505	chr6:117517938-117517939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573900096	chr6:117517939-117517940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544398892	chr6:117517965-117517966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376599298	chr6:117517974-117517975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564852125	chr6:117518013-117518014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116428838	chr6:117518023-117518024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148666933	chr6:117518036-117518037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531198816	chr6:117518048-117518049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181339974	chr6:117518083-117518084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560309333	chr6:117518088-117518089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368513124	chr6:117518091-117518092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527652988	chr6:117518214-117518215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143328854	chr6:117518239-117518240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185955687	chr6:117518263-117518264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531580968	chr6:117518283-117518284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376206546	chr6:117518295-117518296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549991616	chr6:117518299-117518300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377529568	chr6:117518306-117518307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146823650	chr6:117518327-117518328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62430761	chr6:117518377-117518378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117072597	chr6:117518389-117518390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547640423	chr6:117518395-117518396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565550683	chr6:117518504-117518505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1526268	chr6:117518518-117518519	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554414568	chr6:117518535-117518536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140579189	chr6:117518557-117518558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538086394	chr6:117518639-117518640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556319977	chr6:117518645-117518646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532098421	chr6:117518693-117518694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547549671	chr6:117518745-117518746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6922940	chr6:117518785-117518786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538981677	chr6:117518813-117518814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375071898	chr6:117518848-117518849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554403177	chr6:117518852-117518853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565940614	chr6:117518878-117518879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151043999	chr6:117518917-117518918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375468832	chr6:117518938-117518939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190668677	chr6:117518972-117518973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561405163	chr6:117518996-117518997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375239650	chr6:117519117-117519118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576595761	chr6:117519128-117519129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372683699	chr6:117519135-117519136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116180510	chr6:117519182-117519183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565097345	chr6:117519185-117519186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183217986	chr6:117519191-117519192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370627642	chr6:117519194-117519195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140933681	chr6:117519203-117519204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150281016	chr6:117519240-117519241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529697382	chr6:117519265-117519266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117512600-117521200	Weak transcription	Psoas Muscle	Psoas
2	chr6:117516000-117518600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:117516400-117520200	Weak transcription	HSMMtube	muscle
4	chr6:117516600-117518800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:117516800-117518200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:117517200-117518000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:117517200-117521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:117517400-117521000	Weak transcription	HSMM	muscle
9	chr6:117518000-117520200	Enhancers	Fetal Muscle Leg	muscle
10	chr6:117518600-117525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:117518800-117519600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:117519000-117519400	Enhancers	Right Atrium	heart
13	chr6:117519400-117519800	Weak transcription	Right Atrium	heart
14	chr6:117519800-117520000	Enhancers	Right Atrium	heart
15	chr6:117520000-117528200	Weak transcription	Right Atrium	heart
16	chr6:117520200-117521000	Enhancers	HSMMtube	muscle
17	chr6:117520200-117522000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:117520200-117525000	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:117520400-117521800	Enhancers	Fetal Heart	heart
20	chr6:117521000-117521400	Enhancers	Adipose Nuclei	Adipose
21	chr6:117521000-117521400	Flanking Active TSS	HSMMtube	muscle
22	chr6:117521000-117521600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:117521000-117521600	Enhancers	HSMM	muscle
24	chr6:117521200-117521600	Enhancers	Psoas Muscle	Psoas
25	chr6:117521400-117521600	Enhancers	HSMMtube	muscle
26	chr6:117521600-117526800	Weak transcription	HSMM	muscle
27	chr6:117521600-117526800	Weak transcription	HSMMtube	muscle
28	chr6:117525000-117525200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:117525000-117525400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:117525000-117525400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:117525000-117525400	Enhancers	Fetal Muscle Leg	muscle
32	chr6:117525200-117526000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:117525200-117526600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:117525200-117528200	Weak transcription	Left Ventricle	heart
35	chr6:117525400-117528200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:117525400-117528400	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:117526000-117527200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:117526000-117527200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:117526200-117527000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:117526200-117527000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:117526200-117527000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:117526800-117527200	Enhancers	Placenta	Placenta
43	chr6:117526800-117528600	Enhancers	HSMMtube	muscle
44	chr6:117526800-117528800	Enhancers	HSMM	muscle
45	chr6:117527200-117528200	Weak transcription	Placenta	Placenta
46	chr6:117527200-117528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:117527600-117528400	Enhancers	Fetal Heart	heart
48	chr6:117528000-117528600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:117528000-117528800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:117528200-117528400	Enhancers	Placenta	Placenta

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