Variant report

Variant	nsv5351
Chromosome Location	chr6:74590127-74643177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74448554..74449078-chr6:74608125..74608832,2	MCF-7	breast:
2	chr6:74564309..74565336-chr6:74608092..74608897,3	MCF-7	breast:
3	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:
4	chr6:74565749..74566422-chr6:74608012..74609100,4	MCF-7	breast:
5	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:
6	chr6:74564379..74565320-chr6:74608025..74608803,2	MCF-7	breast:
7	chr6:74565754..74566717-chr6:74608280..74609006,4	MCF-7	breast:

Extended variants
information (count: 1035 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568520848	chr6:74590144-74590145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535797164	chr6:74590219-74590220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111648227	chr6:74590266-74590267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573420782	chr6:74590275-74590276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371322302	chr6:74590282-74590283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540902809	chr6:74590286-74590287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12530300	chr6:74590313-74590314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12530282	chr6:74590335-74590336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544759415	chr6:74590338-74590339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183510313	chr6:74590340-74590341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189415393	chr6:74590373-74590374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534215331	chr6:74590396-74590397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371752805	chr6:74590433-74590434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573427095	chr6:74590471-74590472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542216142	chr6:74590472-74590473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561251902	chr6:74590522-74590523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528403141	chr6:74590552-74590553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193208698	chr6:74590556-74590557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150982362	chr6:74590584-74590585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185325826	chr6:74590589-74590590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550262190	chr6:74590621-74590622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs41475845	chr6:74590622-74590623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577718750	chr6:74590623-74590624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140851521	chr6:74590625-74590626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190224628	chr6:74590643-74590644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534273444	chr6:74590706-74590707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559195149	chr6:74590716-74590717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577524605	chr6:74590724-74590725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538395769	chr6:74590743-74590744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181368788	chr6:74590789-74590790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574952917	chr6:74590799-74590800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34615353	chr6:74590817-74590818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185630342	chr6:74590873-74590874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188531448	chr6:74590893-74590894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372614733	chr6:74590910-74590911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150208542	chr6:74590918-74590919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574281951	chr6:74590960-74590961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542911407	chr6:74590977-74590978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532195196	chr6:74591003-74591004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138807639	chr6:74591007-74591008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75385326	chr6:74591022-74591023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77296255	chr6:74591028-74591029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180942520	chr6:74591071-74591072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73755090	chr6:74591073-74591074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533744081	chr6:74591078-74591079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138322460	chr6:74591094-74591095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571131941	chr6:74591137-74591138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538458908	chr6:74591146-74591147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531028587	chr6:74591165-74591166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185118756	chr6:74591181-74591182	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74587400-74590200	Enhancers	NHDF-Ad	bronchial
2	chr6:74588000-74590400	Enhancers	Fetal Stomach	stomach
3	chr6:74588800-74591200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:74589400-74592600	Weak transcription	Fetal Kidney	kidney
5	chr6:74590400-74591000	Weak transcription	Fetal Stomach	stomach
6	chr6:74591000-74591200	Enhancers	Fetal Stomach	stomach
7	chr6:74591200-74592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:74592600-74593000	Enhancers	Fetal Kidney	kidney
9	chr6:74593000-74597000	Weak transcription	Fetal Kidney	kidney
10	chr6:74594600-74595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:74595200-74596400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:74596000-74596400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:74596000-74597400	Enhancers	Primary T cells from cord blood	blood
14	chr6:74596000-74597400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:74596000-74597600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr6:74596000-74598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:74596200-74597000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:74596200-74597000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:74596200-74597000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:74596200-74597000	Enhancers	GM12878-XiMat	blood
21	chr6:74596200-74597400	Enhancers	Dnd41	blood
22	chr6:74596400-74597000	Enhancers	NH-A	brain
23	chr6:74596400-74597200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:74596400-74597600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:74596400-74597600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:74596600-74596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:74596600-74597000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:74596600-74597000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:74596600-74597000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:74596600-74597400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:74596600-74597400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:74596600-74597400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:74596600-74597600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:74596800-74598400	Enhancers	HUVEC	blood vessel
35	chr6:74597000-74597200	Enhancers	Fetal Kidney	kidney
36	chr6:74597400-74601200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:74601200-74601400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr6:74601200-74602000	ZNF genes & repeats	Aorta	Aorta
39	chr6:74602000-74602200	Weak transcription	Aorta	Aorta
40	chr6:74602200-74602400	Enhancers	Aorta	Aorta
41	chr6:74610400-74610800	ZNF genes & repeats	Gastric	stomach
42	chr6:74610600-74611200	ZNF genes & repeats	Placenta	Placenta
43	chr6:74610600-74611200	ZNF genes & repeats	Pancreas	Pancrea
44	chr6:74612600-74613400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:74612800-74613200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:74612800-74613400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:74613400-74619400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:74616000-74619400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:74619400-74620000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:74619400-74620200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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