Variant report

Variant	esv3370013
Chromosome Location	chr6:67966280-67988617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183795784	chr6:67975261-67975262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573437066	chr6:67975265-67975266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140488658	chr6:67975270-67975271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7454160	chr6:67975311-67975312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547508172	chr6:67975326-67975327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567296449	chr6:67975343-67975344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536223940	chr6:67975349-67975350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34106491	chr6:67975360-67975361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550220575	chr6:67975362-67975363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71555343	chr6:67975375-67975376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1903055	chr6:67975399-67975400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538862008	chr6:67975417-67975418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12205738	chr6:67975422-67975423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572294544	chr6:67975429-67975430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13196632	chr6:67975453-67975454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539992630	chr6:67975540-67975541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532598985	chr6:67975583-67975584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574515178	chr6:67975600-67975601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138314004	chr6:67975640-67975641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142316209	chr6:67975642-67975643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146174439	chr6:67975679-67975680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186182795	chr6:67975693-67975694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565129752	chr6:67975710-67975711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1903056	chr6:67975727-67975728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375693318	chr6:67975770-67975771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547535024	chr6:67975779-67975780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560928282	chr6:67975781-67975782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67306034	chr6:67975799-67975800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374696993	chr6:67975801-67975802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548879999	chr6:67975805-67975806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190653886	chr6:67975841-67975842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569546352	chr6:67975844-67975845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539359210	chr6:67975861-67975862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552578334	chr6:67975881-67975882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558270891	chr6:67975886-67975887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138914738	chr6:67975900-67975901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182565688	chr6:67975918-67975919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138452220	chr6:67975923-67975924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574552040	chr6:67975993-67975994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537056420	chr6:67975994-67975995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377284696	chr6:67975995-67975996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559927007	chr6:67976002-67976003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577162020	chr6:67976040-67976041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371133500	chr6:67976106-67976107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142821855	chr6:67976110-67976111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528358972	chr6:67976129-67976130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1841109	chr6:67976137-67976138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187177540	chr6:67976171-67976172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560968904	chr6:67976176-67976177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191632971	chr6:67976177-67976178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67975200-67977600	Weak transcription	Right Atrium	heart
2	chr6:67975800-67976400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr6:67975800-67976600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:67975800-67976600	Enhancers	K562	blood
5	chr6:67975800-67976800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:67976000-67976800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:67976200-67976400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:67976600-67978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:67976800-67978000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:67977800-67978400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:67978000-67978400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:67978000-67978400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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