Variant report

Variant	nsv1033018
Chromosome Location	chr6:65901568-65943266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 587 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553843060	chr6:65901579-65901580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142381186	chr6:65901615-65901616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542808349	chr6:65901650-65901651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17640143	chr6:65901675-65901676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576626314	chr6:65901725-65901726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186161625	chr6:65901756-65901757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544217928	chr6:65901763-65901764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2208581	chr6:65901816-65901817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554508222	chr6:65901824-65901825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532941715	chr6:65901834-65901835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192181164	chr6:65901840-65901841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7741803	chr6:65901841-65901842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60578566	chr6:65901842-65901843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529086926	chr6:65901851-65901852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75802708	chr6:65901853-65901854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74796124	chr6:65901865-65901866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562814073	chr6:65901948-65901949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531476535	chr6:65902012-65902013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551237900	chr6:65902028-65902029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183878915	chr6:65902039-65902040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562393881	chr6:65902059-65902060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533932060	chr6:65902080-65902081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547491000	chr6:65902083-65902084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151300572	chr6:65902105-65902106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187708083	chr6:65902116-65902117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556453356	chr6:65902148-65902149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575531225	chr6:65902187-65902188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58238401	chr6:65902188-65902189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576558482	chr6:65902220-65902221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538998139	chr6:65902240-65902241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544518968	chr6:65902252-65902253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542625372	chr6:65902299-65902300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377595436	chr6:65902300-65902301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559284220	chr6:65902305-65902306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577758875	chr6:65902310-65902311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540186896	chr6:65902378-65902379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9453220	chr6:65902462-65902463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192268083	chr6:65902463-65902464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564960103	chr6:65902512-65902513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542826231	chr6:65902541-65902542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182344128	chr6:65902593-65902594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564601284	chr6:65902610-65902611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531678485	chr6:65902620-65902621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535087	chr6:65902642-65902643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140482603	chr6:65902728-65902729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117032310	chr6:65902746-65902747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527689448	chr6:65902757-65902758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547354444	chr6:65902762-65902763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186922391	chr6:65902772-65902773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147065644	chr6:65902779-65902780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65899800-65901800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:65900400-65901800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:65900400-65902000	Enhancers	Brain Germinal Matrix	brain
4	chr6:65900600-65901800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:65900600-65901800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:65900600-65901800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:65900600-65902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:65900600-65902000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:65900800-65901800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:65900800-65901800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:65901200-65902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:65901400-65901800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:65901800-65905200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:65902000-65910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:65909200-65909600	Enhancers	HUVEC	blood vessel
16	chr6:65910200-65910400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:65911600-65913000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:65913000-65913400	ZNF genes & repeats	Fetal Lung	lung
19	chr6:65939000-65940400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:65939200-65940000	Enhancers	Fetal Lung	lung
21	chr6:65939200-65940400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:65939200-65940400	Enhancers	HUVEC	blood vessel
23	chr6:65939600-65940000	Enhancers	Colon Smooth Muscle	Colon
24	chr6:65939600-65940000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr6:65940400-65941800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:65941600-65941800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr6:65941800-65942200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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