Variant report

Variant	nsv518624
Chromosome Location	chr6:141133003-141141957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:225923916..225924696-chr6:141138966..141139702,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMBR-2	chr6:141137269-141138214	NONHSAT115288

Extended variants
information (count: 301 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs582203	chr6:141133003-141133004	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184014821	chr6:141133068-141133069	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187713163	chr6:141133069-141133070	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543142184	chr6:141133102-141133103	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528895978	chr6:141133105-141133106	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570851240	chr6:141133182-141133183	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76854681	chr6:141133195-141133196	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568638559	chr6:141133224-141133225	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs583551	chr6:141133278-141133279	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs116898883	chr6:141133307-141133308	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548023976	chr6:141133340-141133341	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534180139	chr6:141133384-141133385	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs584505	chr6:141133505-141133506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190938602	chr6:141133562-141133563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374799932	chr6:141133613-141133614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556896807	chr6:141133795-141133796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113390343	chr6:141133834-141133835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182162364	chr6:141133897-141133898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545501775	chr6:141133935-141133936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564089567	chr6:141133985-141133986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142656054	chr6:141134062-141134063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528332891	chr6:141134086-141134087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540143554	chr6:141134100-141134101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1125638	chr6:141134154-141134155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187226372	chr6:141134160-141134161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs601084	chr6:141134173-141134174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568526915	chr6:141134175-141134176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532846459	chr6:141134181-141134182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551458592	chr6:141134329-141134330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566949309	chr6:141134358-141134359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151027198	chr6:141134372-141134373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549997883	chr6:141134427-141134428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534446042	chr6:141134446-141134447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542404608	chr6:141134469-141134470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569819150	chr6:141134470-141134471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75294212	chr6:141134507-141134508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111317000	chr6:141134550-141134551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561846936	chr6:141134553-141134554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368722312	chr6:141134565-141134566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6922573	chr6:141134572-141134573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs191638491	chr6:141134574-141134575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184536190	chr6:141134588-141134589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545129046	chr6:141134616-141134617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs653268	chr6:141134617-141134618	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572932353	chr6:141134660-141134661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540457156	chr6:141134664-141134665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs72988116	chr6:141134666-141134667	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573571640	chr6:141134675-141134676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs544104321	chr6:141134680-141134681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs612305	chr6:141134681-141134682	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Autism	22495311	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
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141132600-141133200	Enhancers	Ovary	ovary
2	chr6:141133000-141133400	Active TSS	GM12878-XiMat	blood
3	chr6:141133200-141134600	Weak transcription	Ovary	ovary
4	chr6:141134600-141134800	ZNF genes & repeats	Ovary	ovary
5	chr6:141134800-141144800	Weak transcription	Ovary	ovary
6	chr6:141137200-141138000	Enhancers	Fetal Intestine Small	intestine
7	chr6:141137400-141137800	Enhancers	Fetal Intestine Large	intestine
8	chr6:141137400-141137800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:141137600-141139000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:141139000-141139400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:141139400-141140400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:141140800-141141000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:141141200-141142000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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