Variant report

Variant	esv3474175
Chromosome Location	chr6:93596158-93599400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr6:93599347-93600040	U2OS	brain:	n/a	n/a
2	SIN3AK20	chr6:93597299-93597861	MCF-7	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHA7-5	chr6:93596969-93597107	NONHSAT114016
2	lnc-EPHA7-5	chr6:93597512-93598299	NONHSAT114016

Variant related genes	Relation type
ATF1P1	TF binding region

Extended variants
information (count: 129 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181398539	chr6:93596158-93596159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140482919	chr6:93596165-93596166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537699540	chr6:93596215-93596216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9351341	chr6:93596223-93596224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs577415534	chr6:93596231-93596232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73755203	chr6:93596275-93596276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2506908	chr6:93596338-93596339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs538638088	chr6:93596351-93596352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35230193	chr6:93596368-93596369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573622643	chr6:93596377-93596378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555344383	chr6:93596381-93596382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531499147	chr6:93596421-93596422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111872183	chr6:93596422-93596423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4707766	chr6:93596433-93596434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184550562	chr6:93596450-93596451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2485815	chr6:93596475-93596476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573903590	chr6:93596563-93596564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565624139	chr6:93596566-93596567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78679446	chr6:93596580-93596581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553214444	chr6:93596588-93596589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188457397	chr6:93596610-93596611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180855231	chr6:93596692-93596693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530107661	chr6:93596800-93596801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17436349	chr6:93596811-93596812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569672876	chr6:93596874-93596875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534745636	chr6:93596943-93596944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538686227	chr6:93596947-93596948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78567800	chr6:93597000-93597001	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200139245	chr6:93597007-93597008	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs12526669	chr6:93597012-93597013	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571244564	chr6:93597078-93597079	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534112577	chr6:93597082-93597083	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs375268271	chr6:93597104-93597105	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112262431	chr6:93597109-93597110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557563609	chr6:93597110-93597111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397952841	chr6:93597124-93597125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186553333	chr6:93597130-93597131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544836301	chr6:93597162-93597163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572013345	chr6:93597173-93597174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573782668	chr6:93597205-93597206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535928110	chr6:93597257-93597258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556335022	chr6:93597258-93597259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190952437	chr6:93597259-93597260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368987755	chr6:93597262-93597263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181992385	chr6:93597299-93597300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572616332	chr6:93597307-93597308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541729174	chr6:93597360-93597361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541145651	chr6:93597364-93597365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561275619	chr6:93597365-93597366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530324013	chr6:93597372-93597373	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93589600-93600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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