Variant report

Variant	esv2451624
Chromosome Location	chr6:120444806-120446350
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	chr6:120445434..120448192-chr6:120451139..120452910,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554669568	chr6:120445228-120445229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181086222	chr6:120445262-120445263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560730195	chr6:120445263-120445264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9482007	chr6:120445265-120445266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs55799404	chr6:120445314-120445315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531381437	chr6:120445349-120445350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377225430	chr6:120445360-120445361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185874366	chr6:120445366-120445367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527588493	chr6:120445414-120445415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546939546	chr6:120445460-120445461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560740379	chr6:120445510-120445511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529729889	chr6:120445528-120445529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531300782	chr6:120445612-120445613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34183541	chr6:120445633-120445634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200896422	chr6:120445679-120445680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138399836	chr6:120445680-120445681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549592205	chr6:120445715-120445716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4623278	chr6:120445719-120445720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149141511	chr6:120445733-120445734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539227840	chr6:120445781-120445782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552815376	chr6:120445855-120445856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142310517	chr6:120445863-120445864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190252349	chr6:120445912-120445913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78794749	chr6:120446031-120446032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147909634	chr6:120446042-120446043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13220010	chr6:120446045-120446046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200085478	chr6:120446047-120446048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202221123	chr6:120446049-120446050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111748768	chr6:120446066-120446067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182591210	chr6:120446095-120446096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2181363	chr6:120446146-120446147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576963886	chr6:120446169-120446170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544762631	chr6:120446183-120446184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564739157	chr6:120446232-120446233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571978163	chr6:120446234-120446235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540980773	chr6:120446252-120446253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12661365	chr6:120446262-120446263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530339338	chr6:120446265-120446266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529656745	chr6:120446305-120446306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549791258	chr6:120446347-120446348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186903684	chr6:120446348-120446349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120445200-120445600	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:120445600-120448600	Weak transcription	Primary B cells from peripheral blood	blood

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