Variant report

Variant	esv1827742
Chromosome Location	chr6:63585140-63598773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 750 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1577822	chr6:63585140-63585141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560518701	chr6:63585184-63585185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527383606	chr6:63585192-63585193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530182190	chr6:63585214-63585215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548628229	chr6:63585219-63585220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566937642	chr6:63585220-63585221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114413438	chr6:63585228-63585229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549342614	chr6:63585264-63585265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138520716	chr6:63585280-63585281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1577823	chr6:63585287-63585288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1577824	chr6:63585292-63585293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368639392	chr6:63585298-63585299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535740723	chr6:63585309-63585310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565698660	chr6:63585332-63585333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534306757	chr6:63585341-63585342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555871485	chr6:63585374-63585375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574162579	chr6:63585396-63585397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187139067	chr6:63585422-63585423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556589772	chr6:63585528-63585529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578229090	chr6:63585559-63585560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545331808	chr6:63585599-63585600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560747152	chr6:63585610-63585611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191947727	chr6:63585611-63585612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140278564	chr6:63585632-63585633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34654333	chr6:63585647-63585648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143559327	chr6:63585668-63585669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542334439	chr6:63585669-63585670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371908951	chr6:63585686-63585687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12205831	chr6:63585703-63585704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531288294	chr6:63585727-63585728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572425601	chr6:63585728-63585729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183325106	chr6:63585730-63585731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79387251	chr6:63585738-63585739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199868455	chr6:63585744-63585745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188286247	chr6:63585763-63585764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142354716	chr6:63585773-63585774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12204410	chr6:63585796-63585797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368883733	chr6:63585841-63585842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564539308	chr6:63585878-63585879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77790001	chr6:63585896-63585897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146327996	chr6:63585902-63585903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538338708	chr6:63585909-63585910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556525276	chr6:63585921-63585922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560671685	chr6:63585967-63585968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577917507	chr6:63586003-63586004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532392642	chr6:63586010-63586011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539334757	chr6:63586011-63586012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138841127	chr6:63586017-63586018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552651891	chr6:63586023-63586024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs66901250	chr6:63586035-63586036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63582400-63589200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63589200-63591800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63591800-63596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63594000-63595200	Enhancers	A549	lung
5	chr6:63595200-63599200	Weak transcription	A549	lung
6	chr6:63596800-63597800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:63597800-63598200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:63598200-63603800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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