Variant report

Variant	nsv5396
Chromosome Location	chr6:93653199-93698107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:93626953..93629918-chr6:93651700..93654036,3	MCF-7	breast:
2	chr6:93649981..93651643-chr6:93653121..93655036,2	MCF-7	breast:
3	chr6:93691182..93692729-chr6:93694302..93697274,2	K562	blood:
4	chr6:93691182..93692729-chr6:93694302..93697274,2	K562	blood:
5	chr6:93652357..93654023-chr6:93654782..93656970,2	K562	blood:
6	chr6:93652357..93654023-chr6:93654782..93656970,2	K562	blood:
7	chr12:54136317..54137172-chr6:93686043..93686596,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MANEA-5	chr6:93690971-93691115	NONHSAT114018
2	lnc-MANEA-5	chr6:93695712-93695847	XLOC_005389
3	lnc-MANEA-5	chr6:93695711-93695847	NONHSAT114018
4	lnc-MANEA-5	chr6:93689708-93689741	XLOC_005389
5	lnc-MANEA-5	chr6:93689707-93689741	NONHSAT114018
6	lnc-MANEA-5	chr6:93690972-93691115	XLOC_005389

No data

Variant related genes	Relation type
EDEM3	miRNA target sites
ZNF236	miRNA target sites
UPF2	miRNA target sites

Extended variants
information (count: 598 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1338253	chr6:93653226-93653227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193087653	chr6:93653252-93653253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184917794	chr6:93653274-93653275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147281182	chr6:93653328-93653329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1338252	chr6:93653342-93653343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148711927	chr6:93653382-93653383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529643889	chr6:93653395-93653396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543895412	chr6:93653399-93653400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563774430	chr6:93653422-93653423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189762858	chr6:93653443-93653444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34848896	chr6:93653574-93653575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142299215	chr6:93653581-93653582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151324375	chr6:93653597-93653598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34179217	chr6:93653627-93653628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1572631	chr6:93653651-93653652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs1572630	chr6:93653658-93653659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527609372	chr6:93653666-93653667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140614106	chr6:93653690-93653691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560787235	chr6:93653721-93653722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192612096	chr6:93653726-93653727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183863461	chr6:93653731-93653732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569430321	chr6:93653751-93653752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577079405	chr6:93653782-93653783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376358639	chr6:93653784-93653785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551591552	chr6:93653824-93653825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113958905	chr6:93653826-93653827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144351550	chr6:93653886-93653887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79985546	chr6:93653896-93653897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117865246	chr6:93653906-93653907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369997957	chr6:93653913-93653914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575815436	chr6:93653920-93653921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575038599	chr6:93653985-93653986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537663775	chr6:93653998-93653999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535401250	chr6:93654005-93654006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544428205	chr6:93654011-93654012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557456935	chr6:93654093-93654094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577446186	chr6:93654102-93654103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1572629	chr6:93654129-93654130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs113317959	chr6:93654149-93654150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574826180	chr6:93654151-93654152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559742367	chr6:93654186-93654187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572236038	chr6:93654201-93654202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188137067	chr6:93654229-93654230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146613522	chr6:93654249-93654250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529808220	chr6:93654258-93654259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1572628	chr6:93654302-93654303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs34196370	chr6:93654304-93654305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540982227	chr6:93654308-93654309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563022840	chr6:93654310-93654311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532281232	chr6:93654353-93654354	Weak transcription 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
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93652400-93655200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:93653800-93654200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:93654200-93655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:93655200-93656200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:93655600-93656000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:93655600-93656000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:93656200-93656400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:93672800-93673200	Enhancers	Fetal Brain Female	brain
9	chr6:93674000-93675600	Enhancers	Fetal Heart	heart
10	chr6:93677200-93677400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:93686000-93686400	Enhancers	Small Intestine	intestine
12	chr6:93686000-93687800	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:93686400-93688800	Weak transcription	Small Intestine	intestine
14	chr6:93686600-93687200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:93687800-93689000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:93688400-93689400	Enhancers	HUVEC	blood vessel
17	chr6:93688600-93689600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:93688800-93689600	Enhancers	Fetal Heart	heart
19	chr6:93688800-93689600	Enhancers	Small Intestine	intestine
20	chr6:93689000-93689400	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:93689400-93694600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:93694600-93695800	Enhancers	Duodenum Mucosa	Duodenum
23	chr6:93697800-93698000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:93698000-93699000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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