Variant report

Variant	nsv830689
Chromosome Location	chr6:73385557-73544404
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:27)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:73414426..73415387-chr6:73821209..73822009,2	MCF-7	breast:
2	chr6:73521424..73523959-chr6:73529159..73530679,2	K562	blood:
3	chr6:73456866..73459087-chr6:73460199..73463115,2	K562	blood:
4	chr6:73507973..73509853-chr6:73519641..73522635,2	K562	blood:
5	chr6:73507068..73509853-chr6:73518738..73522635,3	K562	blood:
6	chr6:73485870..73488428-chr6:73490842..73492773,2	K562	blood:
7	chr6:73438791..73440476-chr6:73442426..73445247,2	K562	blood:
8	chr6:73507973..73509853-chr6:73519641..73522635,2	K562	blood:
9	chr6:73404464..73406713-chr6:73409647..73411780,2	K562	blood:
10	chr6:73331043..73333929-chr6:73392586..73395955,3	K562	blood:
11	chr6:73458624..73460863-chr6:73463471..73466417,2	K562	blood:
12	chr6:73438791..73440476-chr6:73442426..73445247,2	K562	blood:
13	chr6:73121613..73122518-chr6:73414359..73415239,2	MCF-7	breast:
14	chr6:73481887..73484046-chr6:73486664..73488403,2	K562	blood:
15	chr6:73521424..73523959-chr6:73529159..73530679,2	K562	blood:
16	chr6:73456866..73459087-chr6:73460199..73463115,2	K562	blood:
17	chr6:73331613..73333929-chr6:73394207..73395955,2	K562	blood:
18	chr6:73332641..73334454-chr6:73519427..73521172,2	K562	blood:
19	chr6:73442403..73444704-chr6:73445058..73447034,2	K562	blood:
20	chr6:73481887..73484046-chr6:73486664..73488403,2	K562	blood:
21	chr6:73458624..73460863-chr6:73463471..73466417,2	K562	blood:
22	chr6:73485870..73488428-chr6:73490842..73492773,2	K562	blood:
23	chr6:73404464..73406713-chr6:73409647..73411780,2	K562	blood:
24	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
25	chr6:73442403..73444704-chr6:73445058..73447034,2	K562	blood:
26	chr6:73507068..73509853-chr6:73518738..73522635,3	K562	blood:
27	chr6:73414396..73415444-chr6:73839415..73839971,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-257K9.7.1-2	chr6:73438280-73438464	ENSG00000232868.1
2	lnc-RIMS1-1	chr6:73388078-73388282	ENSG00000233844.1
3	lnc-RIMS1-1	chr6:73386819-73386938	ENSG00000233844.1
4	lnc-RP11-257K9.7.1-2	chr6:73437950-73438152	ENSG00000232868.1

No data

Variant related genes	Relation type
ENSG00000185760	chromatin interactions

Extended variants
information (count: 5359 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:5359 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572656031	chr6:73385562-73385563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539769191	chr6:73385571-73385572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62411987	chr6:73385605-73385606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543297780	chr6:73385627-73385628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143451843	chr6:73385713-73385714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188401878	chr6:73385795-73385796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12210850	chr6:73385814-73385815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564946589	chr6:73385842-73385843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532421292	chr6:73385843-73385844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544346125	chr6:73385874-73385875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs118112249	chr6:73385884-73385885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75145426	chr6:73385891-73385892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549235371	chr6:73385928-73385929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567417510	chr6:73385942-73385943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528413747	chr6:73385983-73385984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75665300	chr6:73386043-73386044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573693684	chr6:73386052-73386053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146139782	chr6:73386053-73386054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9446734	chr6:73386070-73386071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538735875	chr6:73386092-73386093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9442833	chr6:73386138-73386139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569418498	chr6:73386179-73386180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536474860	chr6:73386209-73386210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140436814	chr6:73386233-73386234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115288787	chr6:73386309-73386310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559285521	chr6:73386374-73386375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540526226	chr6:73386385-73386386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558523673	chr6:73386434-73386435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111312913	chr6:73386458-73386459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377029876	chr6:73386464-73386465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181139101	chr6:73386513-73386514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150436269	chr6:73386580-73386581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544282883	chr6:73386625-73386626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142695769	chr6:73386665-73386666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs66620361	chr6:73386666-73386667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10648409	chr6:73386667-73386668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77752720	chr6:73386720-73386721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551712413	chr6:73386750-73386751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183724496	chr6:73386829-73386830	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs145244611	chr6:73386842-73386843	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs549524647	chr6:73386910-73386911	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs149201805	chr6:73386916-73386917	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs146786956	chr6:73386966-73386967	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373221912	chr6:73387090-73387091	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532180032	chr6:73387119-73387120	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550629394	chr6:73387124-73387125	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568832670	chr6:73387164-73387165	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531713573	chr6:73387259-73387260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189153651	chr6:73387368-73387369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548446277	chr6:73387422-73387423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Developmental delay	21147756	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
Breast cancer	20409316	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:1089 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73359600-73398800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:73359800-73386800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:73372000-73386800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:73377200-73399000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:73379400-73412600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:73381200-73403600	Weak transcription	Primary T cells from cord blood	blood
7	chr6:73382400-73389800	Weak transcription	GM12878-XiMat	blood
8	chr6:73382800-73414200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:73383600-73412200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:73384400-73386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:73384800-73385600	Enhancers	Osteobl	bone
12	chr6:73384800-73386000	Enhancers	Fetal Heart	heart
13	chr6:73384800-73399800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:73385000-73386200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:73385200-73385800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:73385200-73386200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:73385400-73412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:73385800-73388000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr6:73386000-73390600	Weak transcription	Fetal Heart	heart
20	chr6:73386200-73387000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:73386200-73399000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:73386800-73387000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:73386800-73387200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:73386800-73387200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:73386800-73391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:73387000-73387800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:73387200-73392600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:73387200-73399000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:73387800-73390200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:73389800-73391000	Enhancers	GM12878-XiMat	blood
31	chr6:73390200-73392000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:73390600-73391000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:73390600-73391000	Enhancers	Fetal Heart	heart
34	chr6:73391000-73391400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:73391000-73391400	Weak transcription	GM12878-XiMat	blood
36	chr6:73391400-73392200	Enhancers	GM12878-XiMat	blood
37	chr6:73391400-73392400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:73392200-73393000	Flanking Active TSS	GM12878-XiMat	blood
39	chr6:73392400-73429800	Weak transcription	HSMM	muscle
40	chr6:73392600-73394800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:73393000-73393400	Enhancers	GM12878-XiMat	blood
42	chr6:73393400-73394400	Flanking Active TSS	GM12878-XiMat	blood
43	chr6:73394400-73394800	Enhancers	GM12878-XiMat	blood
44	chr6:73394800-73397000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:73395600-73408800	Weak transcription	HMEC	breast
46	chr6:73396200-73398800	Weak transcription	Osteobl	bone
47	chr6:73397000-73397200	Enhancers	GM12878-XiMat	blood
48	chr6:73397000-73399400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:73397200-73397400	Flanking Active TSS	GM12878-XiMat	blood
50	chr6:73397400-73398200	Enhancers	GM12878-XiMat	blood

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