Variant report

Variant	esv3333127
Chromosome Location	chr6:73634762-73636551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73635330..73637431-chr6:73640282..73642642,2	K562	blood:
2	chr6:73634456..73636689-chr6:73637835..73640049,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539345909	chr6:73634768-73634769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557508996	chr6:73634791-73634792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149249541	chr6:73634823-73634824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143431683	chr6:73634848-73634849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57297293	chr6:73634852-73634853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574169159	chr6:73634855-73634856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541600107	chr6:73634866-73634867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114465060	chr6:73634986-73634987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1316784	chr6:73635005-73635006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545709544	chr6:73635051-73635052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558918088	chr6:73635175-73635176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376010630	chr6:73635176-73635177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563557994	chr6:73635202-73635203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530903849	chr6:73635222-73635223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188172733	chr6:73635228-73635229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370101991	chr6:73635240-73635241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543352007	chr6:73635244-73635245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567708843	chr6:73635248-73635249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191652307	chr6:73635351-73635352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547234950	chr6:73635380-73635381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565529246	chr6:73635389-73635390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539381113	chr6:73635444-73635445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558010126	chr6:73635459-73635460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374321511	chr6:73635481-73635482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537017121	chr6:73635483-73635484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528408345	chr6:73635559-73635560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548062258	chr6:73635623-73635624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9341390	chr6:73635638-73635639	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs369179528	chr6:73635691-73635692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573733944	chr6:73635735-73635736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370906116	chr6:73635736-73635737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77629794	chr6:73635757-73635758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35287899	chr6:73635783-73635784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143509201	chr6:73635792-73635793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182205235	chr6:73635806-73635807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545397697	chr6:73635832-73635833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77106808	chr6:73635945-73635946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201574210	chr6:73635968-73635969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575557457	chr6:73635977-73635978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542960833	chr6:73635978-73635979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561122207	chr6:73636038-73636039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186554416	chr6:73636072-73636073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570014002	chr6:73636098-73636099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192554379	chr6:73636146-73636147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559150172	chr6:73636210-73636211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532933289	chr6:73636227-73636228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1342337	chr6:73636235-73636236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs147204099	chr6:73636247-73636248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185682413	chr6:73636343-73636344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549012151	chr6:73636349-73636350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	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
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73607600-73715400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:73624600-73637200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:73624600-73641400	Weak transcription	Psoas Muscle	Psoas
4	chr6:73624600-73658600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:73630000-73648400	Weak transcription	Aorta	Aorta
6	chr6:73634200-73634800	Enhancers	Fetal Lung	lung
7	chr6:73634600-73635400	Weak transcription	Fetal Heart	heart
8	chr6:73634800-73635200	Weak transcription	Fetal Lung	lung
9	chr6:73635200-73636400	Enhancers	Fetal Lung	lung
10	chr6:73635400-73635600	Enhancers	Fetal Heart	heart
11	chr6:73635400-73636000	Enhancers	HSMM	muscle
12	chr6:73635400-73636200	Enhancers	HSMMtube	muscle
13	chr6:73635600-73641200	Weak transcription	Fetal Heart	heart
14	chr6:73636000-73637000	Weak transcription	HSMM	muscle
15	chr6:73636400-73636800	Weak transcription	Fetal Lung	lung

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