Variant report

Variant	nsv1025334
Chromosome Location	chr6:65614166-65656384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
2	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
3	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
4	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:

Extended variants
information (count: 269 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144481540	chr6:65614173-65614174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550760364	chr6:65614175-65614176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570681979	chr6:65614210-65614211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539670846	chr6:65614216-65614217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181278713	chr6:65614285-65614286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571196327	chr6:65614341-65614342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532303777	chr6:65614346-65614347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573179045	chr6:65614356-65614357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370234958	chr6:65614390-65614391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535525337	chr6:65614405-65614406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555415796	chr6:65614416-65614417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148430629	chr6:65614470-65614471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374011423	chr6:65614475-65614476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77513451	chr6:65614558-65614559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185871220	chr6:65614567-65614568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145016100	chr6:65614571-65614572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147574280	chr6:65614608-65614609	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs1475211	chr6:65614618-65614619	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528069236	chr6:65614627-65614628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs141832162	chr6:65614723-65614724	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62416460	chr6:65614732-65614733	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530593084	chr6:65614746-65614747	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550699328	chr6:65614749-65614750	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs16895996	chr6:65614779-65614780	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145695960	chr6:65614784-65614785	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566855493	chr6:65614791-65614792	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534196222	chr6:65614796-65614797	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574929350	chr6:65614801-65614802	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546868878	chr6:65614804-65614805	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566679639	chr6:65614809-65614810	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535439441	chr6:65614818-65614819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555305268	chr6:65614883-65614884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372735482	chr6:65614905-65614906	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs35593824	chr6:65614941-65614942	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189016676	chr6:65614953-65614954	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575239399	chr6:65615027-65615028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537911684	chr6:65615037-65615038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557873747	chr6:65615097-65615098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578122849	chr6:65615136-65615137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531104317	chr6:65615190-65615191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112472091	chr6:65615193-65615194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577596992	chr6:65615214-65615215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554431719	chr6:65615222-65615223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs36054628	chr6:65615241-65615242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574216797	chr6:65615269-65615270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543363308	chr6:65615304-65615305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370263079	chr6:65615334-65615335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73767162	chr6:65615347-65615348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376362145	chr6:65615353-65615354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530528675	chr6:65615393-65615394	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65614000-65614600	Enhancers	HUVEC	blood vessel
2	chr6:65614200-65615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:65614600-65615000	Flanking Active TSS	HUVEC	blood vessel
4	chr6:65615000-65615600	Enhancers	HUVEC	blood vessel
5	chr6:65621200-65622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:65623600-65624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:65623800-65624200	Enhancers	Hela-S3	cervix
8	chr6:65626000-65626800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:65626200-65626600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:65631800-65632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:65635600-65636200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:65640600-65641000	Enhancers	Fetal Brain Female	brain
13	chr6:65640800-65642200	Weak transcription	Esophagus	oesophagus
14	chr6:65642200-65642600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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