Variant report

Variant	esv1796618
Chromosome Location	chr6:63543977-63592539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3113 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3113 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150745275	chr6:63543991-63543992	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139077268	chr6:63544023-63544024	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538912300	chr6:63544042-63544043	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554323536	chr6:63544046-63544047	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544328546	chr6:63544060-63544061	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562410361	chr6:63544061-63544062	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189344124	chr6:63544066-63544067	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554626659	chr6:63544067-63544068	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61314736	chr6:63544070-63544071	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181939076	chr6:63544087-63544088	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369965263	chr6:63544127-63544128	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149407630	chr6:63544199-63544200	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112567137	chr6:63544201-63544202	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540901374	chr6:63544234-63544235	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541582515	chr6:63544242-63544243	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527799497	chr6:63544258-63544259	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542662273	chr6:63544261-63544262	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559904840	chr6:63544278-63544279	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560953915	chr6:63544293-63544294	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144777318	chr6:63544315-63544316	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527626439	chr6:63544324-63544325	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571877038	chr6:63544337-63544338	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532828659	chr6:63544349-63544350	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139773892	chr6:63544372-63544373	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566250074	chr6:63544389-63544390	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536356356	chr6:63544390-63544391	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185642768	chr6:63544421-63544422	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144503343	chr6:63544456-63544457	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536674537	chr6:63544463-63544464	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117749838	chr6:63544469-63544470	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370742799	chr6:63544500-63544501	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552165176	chr6:63544510-63544511	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375388879	chr6:63544511-63544512	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529044354	chr6:63544517-63544518	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146559188	chr6:63544528-63544529	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570856427	chr6:63544533-63544534	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577078416	chr6:63544543-63544544	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541291105	chr6:63544559-63544560	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552892695	chr6:63544564-63544565	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574249232	chr6:63544602-63544603	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541612983	chr6:63544609-63544610	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9360883	chr6:63544610-63544611	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559904294	chr6:63544623-63544624	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9360884	chr6:63544649-63544650	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565250952	chr6:63544653-63544654	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116333558	chr6:63544658-63544659	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568517701	chr6:63544661-63544662	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190162796	chr6:63544687-63544688	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9341509	chr6:63544703-63544704	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368690936	chr6:63544722-63544723	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Lung cancer	18438408	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63543000-63544600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63544600-63545800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63545800-63556600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63556600-63560400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:63560400-63561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:63561800-63563000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:63563000-63572400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:63571800-63572400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr6:63572400-63572600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:63572600-63579600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:63579600-63582400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:63582400-63589200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:63589200-63591800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:63591800-63596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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