Variant report

Variant	esv3473266
Chromosome Location	chr6:121849980-121851921
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	chr6:121837230..121839698-chr6:121851080..121853527,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538597099	chr6:121849980-121849981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552432035	chr6:121849994-121849995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200843304	chr6:121849997-121849998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141210272	chr6:121850016-121850017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534831522	chr6:121850092-121850093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554302450	chr6:121850097-121850098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187849427	chr6:121850104-121850105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548460374	chr6:121850105-121850106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192431332	chr6:121850109-121850110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185622966	chr6:121850118-121850119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187844568	chr6:121850130-121850131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28649337	chr6:121850145-121850146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191893164	chr6:121850159-121850160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145027020	chr6:121850242-121850243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75933717	chr6:121850291-121850292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184374450	chr6:121850347-121850348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9490316	chr6:121850348-121850349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148944983	chr6:121850382-121850383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559047961	chr6:121850383-121850384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570865943	chr6:121850390-121850391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189099343	chr6:121850404-121850405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113496203	chr6:121850414-121850415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184894689	chr6:121850429-121850430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72499746	chr6:121850451-121850452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2031300	chr6:121850456-121850457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34662591	chr6:121850469-121850470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565972023	chr6:121850472-121850473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528327761	chr6:121850500-121850501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531548491	chr6:121850521-121850522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547675474	chr6:121850542-121850543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs118136538	chr6:121850558-121850559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12209355	chr6:121850570-121850571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs180938151	chr6:121850600-121850601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542545045	chr6:121850616-121850617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556614606	chr6:121850650-121850651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17083745	chr6:121850714-121850715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35565719	chr6:121850747-121850748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539432576	chr6:121850780-121850781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12189576	chr6:121850798-121850799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73534436	chr6:121850849-121850850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186336117	chr6:121850852-121850853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542540395	chr6:121850862-121850863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78002166	chr6:121850871-121850872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543144409	chr6:121850872-121850873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564954927	chr6:121850889-121850890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544746843	chr6:121850902-121850903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12664359	chr6:121850903-121850904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541002239	chr6:121850929-121850930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78521590	chr6:121850941-121850942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533106496	chr6:121850967-121850968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
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
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121845400-121850800	Weak transcription	Osteobl	bone
2	chr6:121845400-121854200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:121847000-121851000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:121848200-121853000	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:121850800-121851200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:121850800-121851200	Enhancers	Osteobl	bone
7	chr6:121850800-121854000	Enhancers	Brain Germinal Matrix	brain
8	chr6:121851000-121855000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:121851200-121852600	Weak transcription	Osteobl	bone

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