Variant report

Variant	esv3410192
Chromosome Location	chr6:117396834-117398882
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	chr6:117398297..117400947-chr6:117402400..117403953,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372309798	chr6:117396851-117396852	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201277095	chr6:117396857-117396858	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556146355	chr6:117396881-117396882	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577920072	chr6:117396914-117396915	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545190630	chr6:117396933-117396934	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140334992	chr6:117396948-117396949	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145737913	chr6:117396955-117396956	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542856843	chr6:117396980-117396981	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561056914	chr6:117397009-117397010	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115776084	chr6:117397039-117397040	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543696324	chr6:117397052-117397053	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs488839	chr6:117397071-117397072	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs625602	chr6:117397170-117397171	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148107748	chr6:117397257-117397258	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140954857	chr6:117397258-117397259	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529749177	chr6:117397292-117397293	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553776089	chr6:117397425-117397426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190861308	chr6:117397467-117397468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567479651	chr6:117397484-117397485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572073534	chr6:117397501-117397502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538150609	chr6:117397520-117397521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182771156	chr6:117397526-117397527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374634694	chr6:117397559-117397560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199758174	chr6:117397576-117397577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186511376	chr6:117397580-117397581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367924768	chr6:117397581-117397582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147560754	chr6:117397599-117397600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201273923	chr6:117397616-117397617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201962321	chr6:117397621-117397622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71012349	chr6:117397623-117397624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77231132	chr6:117397646-117397647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74219790	chr6:117397649-117397650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13206686	chr6:117397666-117397667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371735003	chr6:117397669-117397670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543632285	chr6:117397688-117397689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71012350	chr6:117397690-117397691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143495493	chr6:117397727-117397728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571564715	chr6:117397751-117397752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141985664	chr6:117397765-117397766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201122926	chr6:117397785-117397786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201208671	chr6:117397823-117397824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113175680	chr6:117397824-117397825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527336773	chr6:117397825-117397826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539055022	chr6:117397890-117397891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553879520	chr6:117397901-117397902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183584698	chr6:117398154-117398155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187425895	chr6:117398277-117398278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554808970	chr6:117398286-117398287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559378128	chr6:117398292-117398293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576278003	chr6:117398330-117398331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117395800-117397000	Enhancers	Fetal Heart	heart
2	chr6:117396000-117399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:117396400-117397000	Enhancers	Fetal Lung	lung
4	chr6:117396400-117397200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:117396400-117398400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:117396800-117397400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:117397200-117397400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:117397400-117399400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:117397400-117399400	Weak transcription	Rectal Mucosa Donor 31	rectum

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