Variant report

Variant	nsv511354
Chromosome Location	chr6:74828682-74851053
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	chr6:74835506..74837786-chr6:74837930..74840707,2	MCF-7	breast:
2	chr6:74835506..74837786-chr6:74837930..74840707,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD109-8	chr6:74835887-74836024	ucscGeneNc_uc003phr_2

Extended variants
information (count: 180 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188207272	chr6:74835890-74835891	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs528024878	chr6:74835896-74835897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs180790447	chr6:74835923-74835924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs570760816	chr6:74835956-74835957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs114475926	chr6:74836005-74836006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs572068585	chr6:74837208-74837209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34533540	chr6:74837221-74837222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545413879	chr6:74837244-74837245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35102674	chr6:74837255-74837256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369426638	chr6:74837257-74837258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113312357	chr6:74837269-74837270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543696642	chr6:74837297-74837298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147649436	chr6:74837327-74837328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536595349	chr6:74837330-74837331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75936320	chr6:74837347-74837348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1934021	chr6:74837385-74837386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149082202	chr6:74837386-74837387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183355212	chr6:74837435-74837436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569542207	chr6:74837442-74837443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551827062	chr6:74837506-74837507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187045052	chr6:74837539-74837540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538184989	chr6:74837562-74837563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558671553	chr6:74837564-74837565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191535476	chr6:74837579-74837580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142188977	chr6:74837594-74837595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116799719	chr6:74837602-74837603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182284291	chr6:74837611-74837612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34623072	chr6:74837635-74837636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571833452	chr6:74837714-74837715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530437225	chr6:74837748-74837749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557369327	chr6:74837777-74837778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575627831	chr6:74837845-74837846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576902960	chr6:74837864-74837865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188047797	chr6:74837905-74837906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151273035	chr6:74837978-74837979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544821641	chr6:74838005-74838006	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs541287086	chr6:74838006-74838007	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs559875628	chr6:74838015-74838016	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs533501628	chr6:74838028-74838029	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs551896788	chr6:74838075-74838076	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs193261704	chr6:74838081-74838082	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs530932246	chr6:74838087-74838088	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs549321372	chr6:74838128-74838129	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs140498938	chr6:74838137-74838138	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs145616063	chr6:74838165-74838166	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs185370876	chr6:74838179-74838180	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs565527354	chr6:74838197-74838198	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs12198091	chr6:74838268-74838269	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138226847	chr6:74838277-74838278	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs575689659	chr6:74838278-74838279	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	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	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74837200-74837400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:74837400-74838200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:74838000-74838800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:74838200-74838600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:74839200-74840000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:74843000-74843200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:74846800-74848000	Enhancers	HUVEC	blood vessel
8	chr6:74847400-74848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:74847600-74848000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:74847600-74848000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:74847600-74848000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:74847600-74848000	Enhancers	Osteobl	bone
13	chr6:74847600-74848200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:74847600-74848200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:74847600-74848200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:74847600-74848200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:74847600-74848200	Enhancers	HMEC	breast
18	chr6:74847600-74848200	Enhancers	NHDF-Ad	bronchial
19	chr6:74847600-74848200	Enhancers	NHEK	skin
20	chr6:74847800-74848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:74847800-74848200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:74847800-74848200	Enhancers	Ovary	ovary
23	chr6:74848000-74848400	Flanking Active TSS	HUVEC	blood vessel
24	chr6:74848400-74849400	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links