Variant report

Variant	esv3395765
Chromosome Location	chr6:93207131-93211129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574234736	chr6:93207134-93207135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76345355	chr6:93207137-93207138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75575186	chr6:93207175-93207176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532723585	chr6:93207221-93207222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9353917	chr6:93207234-93207235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560013732	chr6:93207301-93207302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73757028	chr6:93207343-93207344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548609684	chr6:93207354-93207355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114373344	chr6:93207369-93207370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373725770	chr6:93207388-93207389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367558482	chr6:93207438-93207439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13196757	chr6:93207441-93207442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144217793	chr6:93207452-93207453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531056809	chr6:93207480-93207481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551080988	chr6:93207521-93207522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs66489275	chr6:93207541-93207542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34344186	chr6:93207542-93207543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550404504	chr6:93207583-93207584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149922591	chr6:93207597-93207598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570825435	chr6:93207650-93207651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538851665	chr6:93207654-93207655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2730871	chr6:93207658-93207659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12206097	chr6:93207666-93207667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565976435	chr6:93207675-93207676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553114058	chr6:93207689-93207690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55857225	chr6:93207690-93207691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs199561370	chr6:93207694-93207695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11966909	chr6:93207697-93207698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200456971	chr6:93207699-93207700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75150948	chr6:93207705-93207706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574071469	chr6:93207706-93207707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376541227	chr6:93207713-93207714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13213290	chr6:93207714-93207715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536782348	chr6:93207719-93207720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9452032	chr6:93207720-93207721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545792639	chr6:93207721-93207722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75938821	chr6:93207727-93207728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12665114	chr6:93207728-93207729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556649882	chr6:93207730-93207731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79376898	chr6:93207744-93207745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370288932	chr6:93207793-93207794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374932761	chr6:93207795-93207796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377709895	chr6:93207797-93207798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371403109	chr6:93207799-93207800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190604967	chr6:93207817-93207818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184082261	chr6:93207865-93207866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559649633	chr6:93207872-93207873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151018281	chr6:93207887-93207888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566208050	chr6:93207889-93207890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57356601	chr6:93207912-93207913	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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93206800-93207800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:93207800-93208200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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