Variant report

Variant	esv1834914
Chromosome Location	chr6:74811585-74833405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74812681..74814220-chr6:74816370..74818420,2	K562	blood:
2	chr6:74815697..74817712-chr6:74819517..74822083,2	K562	blood:
3	chr6:74815697..74817712-chr6:74819517..74822083,2	K562	blood:
4	chr6:74812681..74814220-chr6:74816370..74818420,2	K562	blood:

Extended variants
information (count: 258 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2486229	chr6:74811585-74811586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11757198	chr6:74811586-74811587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373608199	chr6:74811628-74811629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189389001	chr6:74811640-74811641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568082446	chr6:74811655-74811656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550298879	chr6:74811691-74811692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10485388	chr6:74811695-74811696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143404218	chr6:74811723-74811724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528290686	chr6:74811754-74811755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540082514	chr6:74811792-74811793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374347599	chr6:74811855-74811856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576199714	chr6:74811877-74811878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551884979	chr6:74811912-74811913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147964168	chr6:74811918-74811919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141734096	chr6:74811933-74811934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574017690	chr6:74811939-74811940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549739044	chr6:74811945-74811946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371059060	chr6:74811946-74811947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541064417	chr6:74812001-74812002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369237882	chr6:74812013-74812014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117241054	chr6:74812014-74812015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368539346	chr6:74812015-74812016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563822855	chr6:74812027-74812028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369151436	chr6:74812028-74812029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376850082	chr6:74812043-74812044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181761056	chr6:74812076-74812077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147098766	chr6:74812094-74812095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570591228	chr6:74812131-74812132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138718834	chr6:74812136-74812137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549945236	chr6:74812143-74812144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568060970	chr6:74812172-74812173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535490425	chr6:74812187-74812188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537927096	chr6:74812188-74812189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547090147	chr6:74812195-74812196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77749079	chr6:74812263-74812264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186069412	chr6:74812264-74812265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558005417	chr6:74812285-74812286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576260482	chr6:74812292-74812293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568234821	chr6:74812294-74812295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552712803	chr6:74812323-74812324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190467018	chr6:74812356-74812357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182680557	chr6:74812379-74812380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541563625	chr6:74812418-74812419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541474385	chr6:74812420-74812421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559511049	chr6:74812425-74812426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577948492	chr6:74812435-74812436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186231255	chr6:74812503-74812504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564364258	chr6:74812510-74812511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9447155	chr6:74812589-74812590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550006082	chr6:74812646-74812647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74811000-74813200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:74813200-74813600	Enhancers	Rectal Smooth Muscle	rectum
3	chr6:74813400-74813800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:74823400-74827800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:74824200-74824400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr6:74825400-74825600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr6:74827200-74827600	Enhancers	Fetal Stomach	stomach
8	chr6:74827200-74827600	Enhancers	HSMMtube	muscle

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