Variant report

Variant	nsv604788
Chromosome Location	chr6:142003989-142028607
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	chr6:142009509..142011064-chr6:142029041..142031372,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9403333	chr6:142003989-142003990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372488841	chr6:142004019-142004020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9484544	chr6:142004029-142004030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541485477	chr6:142004052-142004053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547333241	chr6:142004067-142004068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143033562	chr6:142004080-142004081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572340778	chr6:142004090-142004091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542437889	chr6:142004093-142004094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186540538	chr6:142004095-142004096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369592614	chr6:142004141-142004142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531424303	chr6:142004219-142004220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543076734	chr6:142004234-142004235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9321828	chr6:142004252-142004253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531969281	chr6:142004254-142004255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114709080	chr6:142004270-142004271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117133970	chr6:142004284-142004285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191761355	chr6:142004316-142004317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182922524	chr6:142004325-142004326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536529203	chr6:142004379-142004380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10457722	chr6:142004452-142004453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10457723	chr6:142004464-142004465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11757594	chr6:142004500-142004501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375055050	chr6:142004502-142004503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34711149	chr6:142004527-142004528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538885770	chr6:142004590-142004591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570999939	chr6:142004643-142004644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9403334	chr6:142004712-142004713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149782748	chr6:142004716-142004717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574763289	chr6:142004790-142004791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140106034	chr6:142004801-142004802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9403335	chr6:142004828-142004829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554579888	chr6:142004848-142004849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187220469	chr6:142004880-142004881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543250721	chr6:142004904-142004905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9376646	chr6:142004921-142004922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576555300	chr6:142004928-142004929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369214012	chr6:142004930-142004931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559266362	chr6:142004967-142004968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529666604	chr6:142005036-142005037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548816237	chr6:142005089-142005090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538643117	chr6:142005098-142005099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192554382	chr6:142005127-142005128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374844615	chr6:142005135-142005136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144731079	chr6:142005137-142005138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9376647	chr6:142005159-142005160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570936916	chr6:142005203-142005204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535095592	chr6:142005218-142005219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546796182	chr6:142005232-142005233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58541881	chr6:142005284-142005285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60354710	chr6:142005290-142005291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141999200-142006000	Weak transcription	NHDF-Ad	bronchial
2	chr6:142022000-142022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:142022000-142022400	Enhancers	Colon Smooth Muscle	Colon
4	chr6:142022000-142022600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:142025400-142026000	Enhancers	Brain Germinal Matrix	brain
6	chr6:142026200-142026600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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