Variant report

Variant	nsv526236
Chromosome Location	chr6:74563545-74662900
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:
2	chr6:74561939..74564263-chr6:74564657..74566867,2	K562	blood:
3	chr6:74654318..74655307-chrX:136670826..136671580,2	MCF-7	breast:
4	chr6:74564419..74565369-chr9:17774545..17775065,2	K562	blood:
5	chr6:74565749..74566422-chr6:74608012..74609100,4	MCF-7	breast:
6	chr6:74564592..74565216-chr6:74679361..74679928,2	MCF-7	breast:
7	chr6:74565754..74566717-chr6:74608280..74609006,4	MCF-7	breast:
8	chr6:74448759..74449506-chr6:74564233..74564802,2	MCF-7	breast:
9	chr6:74564448..74565500-chr6:75920595..75921574,4	K562	blood:
10	chr6:74564799..74565392-chr6:74801154..74801695,2	MCF-7	breast:
11	chr6:74564379..74565320-chr6:74608025..74608803,2	MCF-7	breast:
12	chr6:74448554..74449078-chr6:74608125..74608832,2	MCF-7	breast:
13	chr6:74565749..74566422-chr6:74608012..74609100,4	MCF-7	breast:
14	chr6:74564309..74565336-chr6:74608092..74608897,3	MCF-7	breast:
15	chr6:74533678..74534293-chr6:74564360..74564873,2	MCF-7	breast:
16	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:
17	chr6:74564379..74565320-chr6:74608025..74608803,2	MCF-7	breast:
18	chr6:74564309..74565336-chr6:74608092..74608897,3	MCF-7	breast:
19	chr6:74561939..74564263-chr6:74564657..74566867,2	K562	blood:
20	chr6:74564800..74565363-chr6:74797356..74797902,2	MCF-7	breast:
21	chr6:74565754..74566717-chr6:74608280..74609006,4	MCF-7	breast:

No data

Extended variants
information (count: 2421 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2421 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs959369	chr6:74563545-74563546	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371998733	chr6:74563549-74563550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552699742	chr6:74563583-74563584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs765597	chr6:74563610-74563611	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76285460	chr6:74563644-74563645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187676304	chr6:74563655-74563656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550214225	chr6:74563694-74563695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368250724	chr6:74563717-74563718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149236053	chr6:74563773-74563774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535827740	chr6:74563778-74563779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554614749	chr6:74563801-74563802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539329554	chr6:74563912-74563913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200748992	chr6:74563913-74563914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552312333	chr6:74564083-74564084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368813297	chr6:74564205-74564206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192074960	chr6:74564375-74564376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558670073	chr6:74564397-74564398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576550876	chr6:74564417-74564418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543866110	chr6:74564481-74564482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185034065	chr6:74564489-74564490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535842307	chr6:74564493-74564494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574143944	chr6:74564496-74564497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75720188	chr6:74564543-74564544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556574458	chr6:74564548-74564549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28589281	chr6:74564590-74564591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60439684	chr6:74564595-74564596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2196622	chr6:74564596-74564597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs117335173	chr6:74564629-74564630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554391320	chr6:74564661-74564662	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80063016	chr6:74564715-74564716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550325882	chr6:74564765-74564766	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568562671	chr6:74564773-74564774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112754345	chr6:74564794-74564795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529346498	chr6:74564796-74564797	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549323551	chr6:74564798-74564799	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144435590	chr6:74564833-74564834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534063030	chr6:74564879-74564880	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78913096	chr6:74564889-74564890	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566053428	chr6:74564909-74564910	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34918675	chr6:74564933-74564934	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34657631	chr6:74564959-74564960	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538897672	chr6:74564960-74564961	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188344848	chr6:74564987-74564988	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398110287	chr6:74565129-74565130	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs528960997	chr6:74565130-74565131	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145768310	chr6:74565134-74565135	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs397749303	chr6:74565140-74565141	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs555883039	chr6:74565145-74565146	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574157921	chr6:74565156-74565157	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs192535916	chr6:74565212-74565213	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	22016467	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74526400-74565000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:74542400-74566800	Weak transcription	HMEC	breast
4	chr6:74552800-74567600	Weak transcription	NHDF-Ad	bronchial
5	chr6:74554200-74566800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:74555000-74565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:74555200-74566800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:74555400-74565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:74555400-74574400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:74555600-74565000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:74555600-74569600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:74556000-74576000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:74556800-74574400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:74562000-74563800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:74562000-74564000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:74562000-74577800	Weak transcription	Aorta	Aorta
17	chr6:74562800-74566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:74563200-74566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:74563800-74565800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:74564000-74564200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:74564200-74565000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:74564600-74564800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:74564800-74565000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:74564800-74565000	Enhancers	Liver	Liver
25	chr6:74564800-74565000	Active TSS	NHEK	skin
26	chr6:74564800-74565000	Enhancers	Osteobl	bone
27	chr6:74564800-74565200	Active TSS	Adipose Nuclei	Adipose
28	chr6:74564800-74565200	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:74564800-74565600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:74564800-74574800	Weak transcription	HUVEC	blood vessel
31	chr6:74565000-74565200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:74565000-74565200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:74565000-74565200	Flanking Active TSS	NHEK	skin
34	chr6:74565000-74565400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:74565000-74565400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:74565000-74565400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:74565000-74565400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:74565000-74565400	Flanking Active TSS	Liver	Liver
39	chr6:74565000-74565400	Active TSS	Stomach Smooth Muscle	stomach
40	chr6:74565000-74565400	Flanking Active TSS	Osteobl	bone
41	chr6:74565000-74565800	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:74565200-74565400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:74565200-74565800	Enhancers	NHEK	skin
44	chr6:74565200-74566200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:74565200-74567800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:74565400-74565600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:74565400-74565600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:74565400-74565600	Enhancers	HSMMtube	muscle
49	chr6:74565400-74565600	Enhancers	Osteobl	bone
50	chr6:74565400-74565800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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