Variant report

Variant	esv9697
Chromosome Location	chr6:54556187-54556998
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	chr6:54556132..54558033-chr6:54708676..54711461,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573496122	chr6:54556199-54556200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77676356	chr6:54556203-54556204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200780752	chr6:54556254-54556255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57733393	chr6:54556255-54556256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397958497	chr6:54556259-54556260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74909658	chr6:54556281-54556282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142858787	chr6:54556286-54556287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541433642	chr6:54556380-54556381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201332551	chr6:54556450-54556451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533710315	chr6:54556451-54556452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550492781	chr6:54556452-54556453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563914894	chr6:54556453-54556454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529520525	chr6:54556454-54556455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549552064	chr6:54556593-54556594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112228958	chr6:54556648-54556649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374252994	chr6:54556765-54556766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368677441	chr6:54556766-54556767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370486667	chr6:54556767-54556768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375304777	chr6:54556770-54556771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199527113	chr6:54556775-54556776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565788534	chr6:54556809-54556810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73743735	chr6:54556822-54556823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs151044877	chr6:54556835-54556836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116331828	chr6:54556839-54556840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9885668	chr6:54556865-54556866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572192037	chr6:54556866-54556867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556825663	chr6:54556889-54556890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9395989	chr6:54556924-54556925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567179394	chr6:54556941-54556942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11963020	chr6:54556944-54556945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552718371	chr6:54556966-54556967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572540455	chr6:54556968-54556969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54554800-54556200	Enhancers	Stomach Mucosa	stomach
2	chr6:54556200-54557200	Weak transcription	Stomach Mucosa	stomach

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