Variant report

Variant	esv1794408
Chromosome Location	chr6:73363298-73419987
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:73331613..73333929-chr6:73394207..73395955,2	K562	blood:
2	chr6:73404464..73406713-chr6:73409647..73411780,2	K562	blood:
3	chr6:73331043..73333929-chr6:73392586..73395955,3	K562	blood:
4	chr6:73358114..73359943-chr6:73361641..73364070,2	K562	blood:
5	chr6:73414396..73415444-chr6:73839415..73839971,4	MCF-7	breast:
6	chr6:73404464..73406713-chr6:73409647..73411780,2	K562	blood:
7	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
8	chr6:73121613..73122518-chr6:73414359..73415239,2	MCF-7	breast:
9	chr6:73357444..73360283-chr6:73362570..73365237,3	K562	blood:
10	chr6:73414426..73415387-chr6:73821209..73822009,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMS1-1	chr6:73386819-73386938	ENSG00000233844.1
2	lnc-RIMS1-1	chr6:73388078-73388282	ENSG00000233844.1

No data

Variant related genes	Relation type
ENSG00000185760	chromatin interactions

Extended variants
information (count: 1890 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1890 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532662976	chr6:73363307-73363308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187799692	chr6:73363339-73363340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569111670	chr6:73363364-73363365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547521861	chr6:73363368-73363369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138738585	chr6:73363415-73363416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193150926	chr6:73363417-73363418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566156416	chr6:73363452-73363453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374357036	chr6:73363512-73363513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368458249	chr6:73363525-73363526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113747080	chr6:73363588-73363589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573487536	chr6:73363599-73363600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534486268	chr6:73363636-73363637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185653273	chr6:73363665-73363666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571125073	chr6:73363735-73363736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568326971	chr6:73363771-73363772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149343973	chr6:73363775-73363776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557221664	chr6:73363825-73363826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551512739	chr6:73363915-73363916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188416474	chr6:73363937-73363938	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575125889	chr6:73364005-73364006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs371831391	chr6:73364007-73364008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35807026	chr6:73364025-73364026	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79210279	chr6:73364059-73364060	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12200058	chr6:73364075-73364076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs62411985	chr6:73364108-73364109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191895328	chr6:73364124-73364125	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs574279043	chr6:73364153-73364154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs184079585	chr6:73364205-73364206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188422510	chr6:73364207-73364208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181148227	chr6:73364209-73364210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs9350468	chr6:73364316-73364317	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs117181360	chr6:73364342-73364343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550728943	chr6:73364363-73364364	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184470062	chr6:73364421-73364422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530028131	chr6:73364446-73364447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189437931	chr6:73364466-73364467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78313772	chr6:73364477-73364478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570588263	chr6:73364501-73364502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76928850	chr6:73364540-73364541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144759705	chr6:73364553-73364554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148532437	chr6:73364556-73364557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539111993	chr6:73364558-73364559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550067708	chr6:73364566-73364567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571305912	chr6:73364601-73364602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558829648	chr6:73364622-73364623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538870988	chr6:73364632-73364633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4707981	chr6:73364674-73364675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs200156574	chr6:73364746-73364747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9446727	chr6:73364749-73364750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9446728	chr6:73364754-73364755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73359600-73373000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73359600-73398800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:73359800-73386800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73360400-73372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:73361000-73367200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73361800-73367200	Weak transcription	NHEK	skin
7	chr6:73362400-73367200	Weak transcription	Osteobl	bone
8	chr6:73362600-73365200	Weak transcription	Aorta	Aorta
9	chr6:73362600-73367200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:73362600-73371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:73362600-73379200	Weak transcription	Psoas Muscle	Psoas
12	chr6:73362800-73364400	Enhancers	Primary B cells from cord blood	blood
13	chr6:73362800-73371400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:73363200-73363800	Enhancers	GM12878-XiMat	blood
15	chr6:73363200-73367200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:73363800-73364400	Flanking Active TSS	GM12878-XiMat	blood
17	chr6:73364400-73365000	Enhancers	GM12878-XiMat	blood
18	chr6:73364400-73383200	Weak transcription	Primary B cells from cord blood	blood
19	chr6:73365000-73375200	Weak transcription	GM12878-XiMat	blood
20	chr6:73365200-73365400	Enhancers	Aorta	Aorta
21	chr6:73367200-73367800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:73367200-73367800	Enhancers	NH-A	brain
23	chr6:73367200-73367800	Enhancers	NHEK	skin
24	chr6:73367200-73368000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:73367200-73368000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:73367200-73368000	Enhancers	Osteobl	bone
27	chr6:73367400-73367800	Enhancers	HMEC	breast
28	chr6:73367800-73373000	Weak transcription	HMEC	breast
29	chr6:73367800-73376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:73368000-73371600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:73368000-73371600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:73371400-73372000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:73371600-73371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:73371600-73372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:73371600-73372800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:73371800-73372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:73372000-73386800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:73375000-73376400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:73375200-73375400	ZNF genes & repeats	GM12878-XiMat	blood
40	chr6:73376400-73377200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:73376800-73377200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:73377000-73377200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:73377200-73379000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:73377200-73379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:73377200-73399000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:73378800-73381200	Enhancers	Primary T cells from cord blood	blood
47	chr6:73379000-73379600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:73379200-73379400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:73379200-73379600	Enhancers	Psoas Muscle	Psoas
50	chr6:73379400-73379600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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