Variant report

Variant	esv3330896
Chromosome Location	chr6:62302593-62305791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534804951	chr6:62302636-62302637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569291209	chr6:62302640-62302641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1414806	chr6:62302692-62302693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1414807	chr6:62302698-62302699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571005114	chr6:62302699-62302700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139673900	chr6:62302713-62302714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553250223	chr6:62302722-62302723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369627076	chr6:62302803-62302804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561952621	chr6:62302821-62302822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575001514	chr6:62302829-62302830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143592283	chr6:62302839-62302840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77220351	chr6:62302878-62302879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557419978	chr6:62302921-62302922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575690237	chr6:62302945-62302946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6936366	chr6:62302962-62302963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565179935	chr6:62303008-62303009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181992218	chr6:62303019-62303020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10223816	chr6:62303032-62303033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559096656	chr6:62303043-62303044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78263223	chr6:62303045-62303046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547869104	chr6:62303056-62303057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9350510	chr6:62303097-62303098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140636022	chr6:62303102-62303103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551842481	chr6:62303103-62303104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571131563	chr6:62303144-62303145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187498204	chr6:62303146-62303147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9352036	chr6:62303158-62303159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568646141	chr6:62303208-62303209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149740855	chr6:62303236-62303237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557481415	chr6:62303255-62303256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191428015	chr6:62303264-62303265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145479975	chr6:62303293-62303294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55721242	chr6:62303305-62303306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577090197	chr6:62303337-62303338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371146781	chr6:62303346-62303347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542683338	chr6:62303369-62303370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202066208	chr6:62303380-62303381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528653873	chr6:62303381-62303382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540946229	chr6:62303391-62303392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61579107	chr6:62303395-62303396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559156741	chr6:62303402-62303403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574285951	chr6:62303432-62303433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541574023	chr6:62303433-62303434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370735083	chr6:62303457-62303458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374538262	chr6:62303462-62303463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377268330	chr6:62303472-62303473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142568860	chr6:62303526-62303527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377363583	chr6:62303570-62303571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs70993167	chr6:62303571-62303572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145853639	chr6:62303572-62303573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62301400-62303000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:62301400-62303000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:62301600-62303200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:62301800-62302600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr6:62301800-62303200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:62302000-62302600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:62302000-62302800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:62302000-62310600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:62302400-62303600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:62302600-62303200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:62302800-62303000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:62303000-62303400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:62303000-62303400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:62303200-62304200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:62303200-62304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:62303200-62304400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:62303400-62304800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:62303400-62304800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:62303600-62303800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr6:62304200-62305000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:62304400-62304600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:62304400-62304800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:62305000-62309000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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