Variant report

Variant	nsv7964
Chromosome Location	chr6:120627596-120630408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181938033	chr6:120627617-120627618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34036253	chr6:120627693-120627694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76634347	chr6:120627713-120627714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556367087	chr6:120627754-120627755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574910775	chr6:120627755-120627756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73522857	chr6:120627782-120627783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138105978	chr6:120627811-120627812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184762779	chr6:120627830-120627831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149455519	chr6:120627948-120627949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553042236	chr6:120628003-120628004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79602948	chr6:120628012-120628013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574479033	chr6:120628013-120628014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17082102	chr6:120628075-120628076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs367721324	chr6:120628097-120628098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374780248	chr6:120628106-120628107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541105489	chr6:120628113-120628114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555041543	chr6:120628126-120628127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574861619	chr6:120628127-120628128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9387740	chr6:120628135-120628136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188453431	chr6:120628144-120628145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531560592	chr6:120628169-120628170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9374883	chr6:120628214-120628215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79575407	chr6:120628277-120628278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9374884	chr6:120628278-120628279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575327877	chr6:120628316-120628317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180882955	chr6:120628336-120628337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199826715	chr6:120628342-120628343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186480956	chr6:120628354-120628355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75413786	chr6:120628523-120628524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4524649	chr6:120628537-120628538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76852819	chr6:120628599-120628600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73769747	chr6:120628608-120628609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527328535	chr6:120628612-120628613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546866254	chr6:120628613-120628614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191364473	chr6:120628630-120628631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34968929	chr6:120628634-120628635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73769748	chr6:120628648-120628649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534993391	chr6:120628657-120628658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370929240	chr6:120628666-120628667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188355843	chr6:120628750-120628751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144321654	chr6:120628762-120628763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561792584	chr6:120628763-120628764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529254329	chr6:120628765-120628766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116853670	chr6:120628806-120628807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543910163	chr6:120628815-120628816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181158127	chr6:120628838-120628839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186976115	chr6:120628887-120628888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576265893	chr6:120628970-120628971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3013667	chr6:120628974-120628975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35065362	chr6:120628992-120628993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	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
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120620800-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:120628200-120628600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:120628200-120628600	Enhancers	HUES48 Cell Line	embryonic stem cell

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