Variant report

Variant	nsv604152
Chromosome Location	chr6:93563593-93575330
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	chr6:93560832..93563328-chr6:93567329..93569534,2	MCF-7	breast:
2	chr6:93546886..93549029-chr6:93572049..93573948,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114087480	chr6:93563600-93563601	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs150409781	chr6:93563626-93563627	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs73757216	chr6:93563653-93563654	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538584073	chr6:93563654-93563655	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs191772421	chr6:93563656-93563657	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs9452146	chr6:93563662-93563663	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535377037	chr6:93563695-93563696	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs573566646	chr6:93563717-93563718	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs555181691	chr6:93563815-93563816	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs138325651	chr6:93563845-93563846	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs56138622	chr6:93563847-93563848	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs563759092	chr6:93563872-93563873	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs577267937	chr6:93563922-93563923	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs369785874	chr6:93563974-93563975	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs67366770	chr6:93563975-93563976	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs112347577	chr6:93563979-93563980	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs397787051	chr6:93563980-93563981	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs386703828	chr6:93563981-93563982	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs9345286	chr6:93563986-93563987	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559527549	chr6:93563987-93563988	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs575667849	chr6:93563996-93563997	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs541508302	chr6:93568028-93568029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9363005	chr6:93568052-93568053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs117633073	chr6:93568073-93568074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549907692	chr6:93568074-93568075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9353948	chr6:93568083-93568084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531545606	chr6:93568129-93568130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9445032	chr6:93568141-93568142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571139116	chr6:93568156-93568157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143004308	chr6:93568181-93568182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547056724	chr6:93568187-93568188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567032735	chr6:93568204-93568205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1850016	chr6:93568246-93568247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574489690	chr6:93568259-93568260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182156826	chr6:93568281-93568282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576664628	chr6:93568283-93568284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541878712	chr6:93568290-93568291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538991858	chr6:93568345-93568346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386703832	chr6:93568349-93568350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9353949	chr6:93568351-93568352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541652630	chr6:93568359-93568360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187878109	chr6:93568379-93568380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117820156	chr6:93568382-93568383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543788546	chr6:93568441-93568442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560339397	chr6:93568453-93568454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563563992	chr6:93568473-93568474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9363007	chr6:93568486-93568487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546389646	chr6:93568504-93568505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17686649	chr6:93568527-93568528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532051613	chr6:93568532-93568533	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	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
Breast cancer	17133270	CNVD
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93563600-93563800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:93563600-93563800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:93563600-93564000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr6:93563800-93564000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:93568000-93568600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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