Variant report

Variant	nsv1029949
Chromosome Location	chr6:66379911-66403840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:66389053..66391661-chr6:66392622..66394298,2	MCF-7	breast:
2	chr6:66389053..66391661-chr6:66392622..66394298,2	MCF-7	breast:
3	chr3:189034137..189034728-chr6:66401890..66402666,2	MCF-7	breast:

Extended variants
information (count: 423 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9283820	chr6:66379911-66379912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530580654	chr6:66379912-66379913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550368246	chr6:66379929-66379930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570921783	chr6:66379957-66379958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539589083	chr6:66380009-66380010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151262889	chr6:66380030-66380031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566782215	chr6:66380093-66380094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34934708	chr6:66380098-66380099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67462586	chr6:66380105-66380106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200612283	chr6:66380106-66380107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376269177	chr6:66380195-66380196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141545419	chr6:66380253-66380254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556055200	chr6:66380409-66380410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180982998	chr6:66380448-66380449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546567906	chr6:66380508-66380509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147048304	chr6:66380565-66380566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76472208	chr6:66380656-66380657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147665027	chr6:66380679-66380680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566495941	chr6:66380686-66380687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79759497	chr6:66380718-66380719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72884156	chr6:66380748-66380749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532977833	chr6:66380763-66380764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186443137	chr6:66380803-66380804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188832387	chr6:66380837-66380838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72884159	chr6:66380876-66380877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181586423	chr6:66380951-66380952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186099489	chr6:66380981-66380982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561470777	chr6:66381050-66381051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142306850	chr6:66381073-66381074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140687422	chr6:66381092-66381093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546741578	chr6:66381097-66381098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377128817	chr6:66381098-66381099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566965054	chr6:66381104-66381105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150160939	chr6:66381139-66381140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549445619	chr6:66381172-66381173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569559048	chr6:66381216-66381217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573459054	chr6:66381218-66381219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558306808	chr6:66381289-66381290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571718634	chr6:66381296-66381297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190863825	chr6:66381332-66381333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534421752	chr6:66381358-66381359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552755629	chr6:66381361-66381362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535553228	chr6:66381395-66381396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114165991	chr6:66381405-66381406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565441570	chr6:66381412-66381413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs993015	chr6:66381427-66381428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138598366	chr6:66381455-66381456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9345669	chr6:66381472-66381473	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184103002	chr6:66381484-66381485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149065293	chr6:66381491-66381492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	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
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66379000-66381600	Weak transcription	Hela-S3	cervix
2	chr6:66381400-66382000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:66381600-66382200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:66381600-66382200	Enhancers	Hela-S3	cervix
5	chr6:66381600-66383600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:66390800-66391000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:66390800-66391200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:66390800-66391800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:66391400-66392000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:66392800-66393800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:66393800-66396000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:66396000-66396200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:66396200-66396600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:66399600-66400400	Enhancers	Placenta	Placenta
15	chr6:66401800-66402200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr6:66402200-66403400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:66403600-66403800	Enhancers	Rectal Mucosa Donor 29	rectum

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