Variant report

Variant	nsv428487
Chromosome Location	chr6:81607405-81742838
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:81656912..81658569-chr6:81659055..81661671,2	K562	blood:
2	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
3	chr6:81654232..81656742-chr6:81662594..81664645,2	K562	blood:
4	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
5	chr6:81656427..81658412-chr6:81659055..81660957,2	K562	blood:
6	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
7	chr6:81639861..81642496-chr6:81657768..81659488,2	K562	blood:
8	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
9	chr6:81656427..81658412-chr6:81659055..81660957,2	K562	blood:
10	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
11	chr6:81654232..81656742-chr6:81662594..81664645,2	K562	blood:
12	chr6:81656912..81658569-chr6:81659055..81661671,2	K562	blood:
13	chr6:81639861..81642496-chr6:81657768..81659488,2	K562	blood:
14	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:
15	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:

No data

Extended variants
information (count: 2390 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2390 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574946290	chr6:81609828-81609829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs551604405	chr6:81609830-81609831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76659584	chr6:81609832-81609833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561586642	chr6:81609845-81609846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs188161859	chr6:81609902-81609903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560787090	chr6:81609929-81609930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529833026	chr6:81609945-81609946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530357667	chr6:81609961-81609962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560379481	chr6:81609979-81609980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs138810460	chr6:81609980-81609981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551723397	chr6:81610048-81610049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571660482	chr6:81610081-81610082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140631637	chr6:81610132-81610133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551092866	chr6:81610187-81610188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567887823	chr6:81610200-81610201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545922275	chr6:81612654-81612655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117409898	chr6:81612676-81612677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1361339	chr6:81612683-81612684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143567412	chr6:81612695-81612696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113322221	chr6:81612728-81612729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs989903	chr6:81612731-81612732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527941537	chr6:81612741-81612742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148034075	chr6:81612744-81612745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9361681	chr6:81612745-81612746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141810183	chr6:81612753-81612754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549934972	chr6:81612773-81612774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569731035	chr6:81612794-81612795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529119757	chr6:81612813-81612814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146072249	chr6:81612888-81612889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565974295	chr6:81612894-81612895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12333277	chr6:81612911-81612912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs199779011	chr6:81612912-81612913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80014620	chr6:81612935-81612936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570547222	chr6:81613012-81613013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112362972	chr6:81613081-81613082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187637480	chr6:81613110-81613111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576081514	chr6:81613139-81613140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535664421	chr6:81613142-81613143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76797423	chr6:81613225-81613226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540750146	chr6:81613237-81613238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12333152	chr6:81613248-81613249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541387025	chr6:81613252-81613253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376435183	chr6:81613276-81613277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112706585	chr6:81613279-81613280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116730483	chr6:81613294-81613295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138665485	chr6:81613367-81613368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563374543	chr6:81613368-81613369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373369383	chr6:81613403-81613404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528955596	chr6:81613422-81613423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142682422	chr6:81613437-81613438	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
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
Acute lymphoblastic leukemia	21098271	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
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81609800-81610200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:81612600-81613800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:81613800-81615000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:81615000-81615400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:81630800-81631800	Enhancers	Fetal Muscle Leg	muscle
6	chr6:81632000-81633800	Enhancers	Colon Smooth Muscle	Colon
7	chr6:81632200-81633000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:81632800-81634200	Enhancers	Rectal Smooth Muscle	rectum
9	chr6:81633000-81634800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:81642800-81644800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:81644800-81645200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:81645200-81645600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:81645600-81646400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:81646400-81648400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:81646800-81647000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:81649000-81649600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:81649000-81649600	Enhancers	NHLF	lung
18	chr6:81649000-81651600	Enhancers	Fetal Lung	lung
19	chr6:81649400-81650800	Enhancers	HSMMtube	muscle
20	chr6:81649600-81650600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:81649600-81650600	Weak transcription	NHLF	lung
22	chr6:81649600-81651400	Enhancers	Dnd41	blood
23	chr6:81649800-81651200	Enhancers	Rectal Smooth Muscle	rectum
24	chr6:81650000-81651200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:81650200-81650800	Enhancers	Colon Smooth Muscle	Colon
26	chr6:81650400-81651400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:81650600-81650800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:81651000-81651200	Enhancers	NHLF	lung
29	chr6:81651400-81653800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:81653800-81654200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:81662000-81662800	Enhancers	Dnd41	blood
32	chr6:81662000-81663200	Enhancers	Fetal Intestine Large	intestine
33	chr6:81663200-81668800	Weak transcription	Fetal Intestine Large	intestine
34	chr6:81664400-81664600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr6:81664400-81665000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:81664800-81665200	Enhancers	HUVEC	blood vessel
37	chr6:81664800-81666600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:81665200-81665600	Weak transcription	HUVEC	blood vessel
39	chr6:81665600-81667800	Enhancers	HUVEC	blood vessel
40	chr6:81666400-81667200	Enhancers	Fetal Heart	heart
41	chr6:81666600-81667000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:81667200-81672000	Weak transcription	Fetal Heart	heart
43	chr6:81667800-81669000	Weak transcription	HUVEC	blood vessel
44	chr6:81668800-81669600	Enhancers	Fetal Intestine Large	intestine
45	chr6:81669000-81669400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:81669000-81669600	Enhancers	HUVEC	blood vessel
47	chr6:81669000-81669800	Enhancers	Fetal Stomach	stomach
48	chr6:81669000-81670400	Enhancers	Colon Smooth Muscle	Colon
49	chr6:81669000-81670400	Enhancers	Rectal Smooth Muscle	rectum
50	chr6:81669400-81670800	Enhancers	Dnd41	blood

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