Variant report

Variant	esv3348879
Chromosome Location	chr6:93128556-93130729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539148710	chr6:93128572-93128573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569660775	chr6:93128597-93128598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538498065	chr6:93128598-93128599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138025726	chr6:93128620-93128621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200690746	chr6:93128638-93128639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116509334	chr6:93128643-93128644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140571098	chr6:93128652-93128653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372262238	chr6:93128711-93128712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185274133	chr6:93128733-93128734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145684414	chr6:93128763-93128764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs632559	chr6:93128962-93128963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557587379	chr6:93128964-93128965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535766541	chr6:93128978-93128979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577617597	chr6:93129035-93129036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546482581	chr6:93129109-93129110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138365368	chr6:93129111-93129112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78007110	chr6:93129135-93129136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149559329	chr6:93129165-93129166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114817731	chr6:93129168-93129169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530907529	chr6:93129248-93129249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573362316	chr6:93129262-93129263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542318251	chr6:93129263-93129264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78838337	chr6:93129272-93129273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569471132	chr6:93129300-93129301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77345983	chr6:93129307-93129308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35544664	chr6:93129315-93129316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78168762	chr6:93129332-93129333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79978847	chr6:93129353-93129354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534645711	chr6:93129356-93129357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554260999	chr6:93129357-93129358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377268522	chr6:93129424-93129425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72436101	chr6:93129425-93129426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150895700	chr6:93129428-93129429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3076671	chr6:93129438-93129439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371495911	chr6:93129439-93129440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373260667	chr6:93129440-93129441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376135205	chr6:93129445-93129446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189743572	chr6:93129454-93129455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199567981	chr6:93129480-93129481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537098003	chr6:93129487-93129488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568034982	chr6:93129507-93129508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557601413	chr6:93129514-93129515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541636059	chr6:93129529-93129530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs682551	chr6:93129548-93129549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371885495	chr6:93129569-93129570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56179108	chr6:93129570-93129571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397935395	chr6:93129580-93129581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2875627	chr6:93129581-93129582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373942549	chr6:93129583-93129584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560507409	chr6:93129584-93129585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93126800-93131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:93127400-93128600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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