Variant report

Variant	esv3351228
Chromosome Location	chr6:65635280-65664432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
2	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
3	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
4	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:

Extended variants
information (count: 210 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144552399	chr6:65635603-65635604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73767187	chr6:65635663-65635664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115624595	chr6:65635674-65635675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11754133	chr6:65635682-65635683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561209533	chr6:65635730-65635731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535141429	chr6:65635731-65635732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548586032	chr6:65635746-65635747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191553158	chr6:65635770-65635771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537552456	chr6:65635780-65635781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184078906	chr6:65635787-65635788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369864752	chr6:65635800-65635801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188758029	chr6:65635848-65635849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11754641	chr6:65635923-65635924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
14	rs77794111	chr6:65635943-65635944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563248846	chr6:65635948-65635949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145642370	chr6:65635966-65635967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562872074	chr6:65636011-65636012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181492655	chr6:65636030-65636031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185320323	chr6:65636031-65636032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190177223	chr6:65636052-65636053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148869507	chr6:65636064-65636065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548753025	chr6:65636070-65636071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527909693	chr6:65636075-65636076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182359422	chr6:65636089-65636090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548055852	chr6:65636126-65636127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561229035	chr6:65636140-65636141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71553505	chr6:65640608-65640609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114793619	chr6:65640626-65640627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140678828	chr6:65640639-65640640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6925610	chr6:65640640-65640641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78619591	chr6:65640682-65640683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545708211	chr6:65640719-65640720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549615058	chr6:65640746-65640747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144642122	chr6:65640778-65640779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556516551	chr6:65640838-65640839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376283313	chr6:65640854-65640855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538547098	chr6:65640872-65640873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151209932	chr6:65640920-65640921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570398959	chr6:65640933-65640934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539496211	chr6:65640960-65640961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191739424	chr6:65641012-65641013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552825070	chr6:65641013-65641014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572909020	chr6:65641048-65641049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535241502	chr6:65641049-65641050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555147468	chr6:65641051-65641052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575157428	chr6:65641163-65641164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs16896066	chr6:65641180-65641181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183524279	chr6:65641183-65641184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187239220	chr6:65641198-65641199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116522520	chr6:65641208-65641209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65635600-65636200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:65640600-65641000	Enhancers	Fetal Brain Female	brain
3	chr6:65640800-65642200	Weak transcription	Esophagus	oesophagus
4	chr6:65642200-65642600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:65658800-65659400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:65659000-65659400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:65659000-65659600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:65659000-65659600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:65659400-65661000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:65661000-65661400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:65664400-65666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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