Variant report

Variant	esv3693354
Chromosome Location	chr6:65829390-65886480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:
2	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:
3	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:

Extended variants
information (count: 653 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62407206	chr6:65833201-65833202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559495279	chr6:65833210-65833211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558799414	chr6:65833218-65833219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139473141	chr6:65833272-65833273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572905416	chr6:65833283-65833284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534065571	chr6:65833335-65833336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561964715	chr6:65833365-65833366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530603196	chr6:65833399-65833400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550866793	chr6:65833405-65833406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570625097	chr6:65833406-65833407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539450298	chr6:65833432-65833433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200147282	chr6:65833434-65833435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546547463	chr6:65833449-65833450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566517415	chr6:65833459-65833460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535597320	chr6:65833467-65833468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182725631	chr6:65833503-65833504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569471632	chr6:65833550-65833551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538023996	chr6:65833566-65833567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12193781	chr6:65833625-65833626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs139675867	chr6:65833646-65833647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200860139	chr6:65833647-65833648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79355723	chr6:65833649-65833650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556216023	chr6:65833650-65833651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34701707	chr6:65833651-65833652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368350916	chr6:65833652-65833653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62407207	chr6:65833655-65833656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71553511	chr6:65833680-65833681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2350523	chr6:65833692-65833693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150052142	chr6:65833695-65833696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4559078	chr6:65833718-65833719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79031288	chr6:65833756-65833757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76675134	chr6:65833763-65833764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375126686	chr6:65833830-65833831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187415192	chr6:65833875-65833876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3036010	chr6:65833896-65833897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71980632	chr6:65833897-65833898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397815508	chr6:65833901-65833902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544028621	chr6:65833972-65833973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541946902	chr6:65833976-65833977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564047249	chr6:65834032-65834033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374673946	chr6:65834051-65834052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560097066	chr6:65834055-65834056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533095706	chr6:65834065-65834066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114350708	chr6:65834079-65834080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145173752	chr6:65834084-65834085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3036013	chr6:65834095-65834096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs998738	chr6:65834105-65834106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529237818	chr6:65834184-65834185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549474685	chr6:65834196-65834197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6901873	chr6:65834246-65834247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65833200-65833800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:65833400-65833800	Enhancers	Fetal Lung	lung
3	chr6:65833400-65834000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:65833400-65834000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:65833800-65834000	Enhancers	Fetal Stomach	stomach
6	chr6:65833800-65834800	Weak transcription	Fetal Lung	lung
7	chr6:65834600-65835000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:65834800-65835000	Enhancers	Fetal Stomach	stomach
9	chr6:65834800-65836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:65835000-65835200	Enhancers	Fetal Lung	lung
11	chr6:65836400-65836600	Enhancers	Fetal Stomach	stomach
12	chr6:65836600-65837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:65856000-65856600	Enhancers	HUVEC	blood vessel
14	chr6:65857800-65859200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:65859600-65859800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:65860000-65861400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:65861000-65861400	Enhancers	Fetal Lung	lung
18	chr6:65861400-65862600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr6:65862600-65865200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:65865200-65866800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:65871000-65872200	Enhancers	Fetal Lung	lung
22	chr6:65871000-65872200	Enhancers	Fetal Stomach	stomach
23	chr6:65871600-65872200	Enhancers	HepG2	liver
24	chr6:65871800-65874800	Enhancers	Fetal Brain Male	brain
25	chr6:65872200-65872400	Enhancers	Fetal Brain Female	brain
26	chr6:65872400-65873400	Weak transcription	Fetal Brain Female	brain
27	chr6:65873400-65874400	Enhancers	Fetal Brain Female	brain

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