Variant report

Variant	esv33462
Chromosome Location	chr6:74379731-74381958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74376322..74377859-chr6:74378148..74380917,2	K562	blood:
2	chr6:74376095..74378746-chr6:74380712..74383248,2	MCF-7	breast:
3	chr6:74376881..74379716-chr6:74381672..74384545,2	K562	blood:
4	chr6:74375233..74377822-chr6:74379125..74380917,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183925016	chr6:74379757-74379758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531630751	chr6:74379783-74379784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6453688	chr6:74379809-74379810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568369660	chr6:74379814-74379815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150127762	chr6:74379820-74379821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547632692	chr6:74379877-74379878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565736257	chr6:74379878-74379879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564641527	chr6:74379892-74379893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562079047	chr6:74379893-74379894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557715720	chr6:74379904-74379905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527757146	chr6:74379938-74379939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376216902	chr6:74379946-74379947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7771781	chr6:74379975-74379976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537339800	chr6:74379984-74379985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34377398	chr6:74380133-74380134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113849558	chr6:74380174-74380175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573997821	chr6:74380189-74380190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541199665	chr6:74380252-74380253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375643471	chr6:74380271-74380272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187726220	chr6:74380311-74380312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578032020	chr6:74380320-74380321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545217215	chr6:74380354-74380355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543471496	chr6:74380361-74380362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563691542	chr6:74380438-74380439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113704563	chr6:74380503-74380504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543043866	chr6:74380537-74380538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561934661	chr6:74380580-74380581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529218426	chr6:74380593-74380594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377747178	chr6:74380595-74380596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142831351	chr6:74380609-74380610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559314862	chr6:74380631-74380632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533047387	chr6:74380632-74380633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112508455	chr6:74380659-74380660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569742921	chr6:74380695-74380696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35427545	chr6:74380707-74380708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547886037	chr6:74380750-74380751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112764284	chr6:74380889-74380890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147481924	chr6:74380905-74380906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192284940	chr6:74380915-74380916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140006280	chr6:74380925-74380926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553527569	chr6:74380967-74380968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143817829	chr6:74380976-74380977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112144540	chr6:74380997-74380998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62734662	chr6:74381012-74381013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147249056	chr6:74381026-74381027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529037471	chr6:74381050-74381051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182803251	chr6:74381056-74381057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575713302	chr6:74381059-74381060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543007066	chr6:74381075-74381076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187144541	chr6:74381080-74381081	Weak transcription	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
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
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
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74376400-74390000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:74378400-74380200	Weak transcription	Stomach Mucosa	stomach
3	chr6:74380200-74380400	Enhancers	Stomach Mucosa	stomach
4	chr6:74380400-74380600	Enhancers	Fetal Intestine Small	intestine
5	chr6:74380400-74381800	Weak transcription	Stomach Mucosa	stomach
6	chr6:74381200-74382800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:74381400-74381600	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:74381400-74381600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr6:74381400-74382800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:74381600-74381800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr6:74381600-74382600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:74381800-74382000	Enhancers	Monocytes-CD14+_RO01746	blood

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