Variant report

Variant	esv2763953
Chromosome Location	chr6:71954956-71968035
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:71953923..71956833-chr6:71966030..71968468,2	MCF-7	breast:
2	chr6:71953923..71956833-chr6:71966030..71968468,2	MCF-7	breast:
3	chr6:71955241..71957809-chr6:71959379..71962225,3	K562	blood:
4	chr6:71967934..71970546-chr6:71972875..71975088,2	K562	blood:
5	chr6:71955241..71957809-chr6:71959379..71962225,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GAT2-3	chr6:71963387-71963906	ENSG00000232295.3
2	lnc-B3GAT2-2	chr6:71961061-71961324	ENSG00000232295.1
3	lnc-B3GAT2-3	chr6:71961265-71961347	ENSG00000232295.3

No data

Extended variants
information (count: 449 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:449 , 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	rs190156624	chr6:71954992-71954993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553171247	chr6:71955014-71955015	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578017940	chr6:71955025-71955026	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34797757	chr6:71955055-71955056	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545279718	chr6:71955079-71955080	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563682594	chr6:71955115-71955116	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74381235	chr6:71955118-71955119	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531761765	chr6:71955169-71955170	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200134302	chr6:71955171-71955172	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561255133	chr6:71955219-71955220	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550285328	chr6:71955220-71955221	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181363878	chr6:71955222-71955223	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546804737	chr6:71955227-71955228	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145408516	chr6:71955295-71955296	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147720768	chr6:71955319-71955320	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74605616	chr6:71955323-71955324	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569521304	chr6:71955349-71955350	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535800649	chr6:71955358-71955359	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113134320	chr6:71955375-71955376	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548940523	chr6:71955382-71955383	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567266904	chr6:71955419-71955420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534401388	chr6:71955483-71955484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116857090	chr6:71955497-71955498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553210165	chr6:71955500-71955501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534077311	chr6:71955527-71955528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73503191	chr6:71955528-71955529	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142506835	chr6:71955583-71955584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111571256	chr6:71955585-71955586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575475210	chr6:71955689-71955690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113682356	chr6:71955696-71955697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576964859	chr6:71955701-71955702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561300611	chr6:71955748-71955749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78356901	chr6:71955829-71955830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12527313	chr6:71955841-71955842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565144377	chr6:71955850-71955851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370171891	chr6:71955953-71955954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532605975	chr6:71955962-71955963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190154991	chr6:71955984-71955985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536687770	chr6:71956044-71956045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574118498	chr6:71956064-71956065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150100333	chr6:71956087-71956088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115867726	chr6:71956157-71956158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548726158	chr6:71956203-71956204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138523268	chr6:71956207-71956208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55955822	chr6:71956255-71956256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370809737	chr6:71956280-71956281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34525161	chr6:71956318-71956319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368593289	chr6:71956319-71956320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180732213	chr6:71956322-71956323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538865806	chr6:71956344-71956345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71947000-71955000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:71950200-71955000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:71954600-71961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:71955000-71955400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:71955000-71955600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:71955200-71955400	ZNF genes & repeats	Right Atrium	heart
7	chr6:71955400-71958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:71955400-71959600	Weak transcription	Right Atrium	heart
9	chr6:71955600-71956800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:71955600-71972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:71955800-71958200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:71956200-71958000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr6:71956400-71957000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:71956400-71960200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:71956600-71956800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:71956800-71957800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:71956800-71958000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:71957000-71957400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:71957000-71957400	Enhancers	Fetal Kidney	kidney
20	chr6:71957000-71958200	Enhancers	A549	lung
21	chr6:71957200-71960000	Enhancers	HUVEC	blood vessel
22	chr6:71957400-71957800	Weak transcription	Fetal Kidney	kidney
23	chr6:71957400-71959000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:71957400-71962400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:71957600-71959600	Enhancers	Primary B cells from cord blood	blood
26	chr6:71957600-71959600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:71957800-71958600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:71957800-71959000	Enhancers	Fetal Kidney	kidney
29	chr6:71957800-71959800	Enhancers	Osteobl	bone
30	chr6:71957800-71961200	Enhancers	NHDF-Ad	bronchial
31	chr6:71957800-71965000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:71958000-71958200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr6:71958000-71958200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:71958000-71958400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:71958000-71958400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:71958000-71958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:71958000-71958400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:71958000-71958600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:71958000-71958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:71958000-71958800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:71958000-71958800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:71958000-71959400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:71958000-71959600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:71958000-71960000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:71958000-71960200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:71958000-71960200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:71958000-71960200	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:71958000-71960400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:71958000-71960400	Enhancers	NHEK	skin
50	chr6:71958000-71960800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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