Variant report

Variant	esv3475139
Chromosome Location	chr6:78842210-78850004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397719863	chr6:78842210-78842211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182695053	chr6:78842224-78842225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539419201	chr6:78842246-78842247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551695538	chr6:78842247-78842248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537233208	chr6:78842278-78842279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371015587	chr6:78842441-78842442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558318261	chr6:78842447-78842448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187829062	chr6:78842531-78842532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193172793	chr6:78842535-78842536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77506280	chr6:78842538-78842539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536360995	chr6:78842539-78842540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552908664	chr6:78842540-78842541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113709332	chr6:78842561-78842562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572904167	chr6:78842573-78842574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6921791	chr6:78842574-78842575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146787273	chr6:78842575-78842576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139560546	chr6:78842592-78842593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561341473	chr6:78842593-78842594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144266412	chr6:78842620-78842621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146583147	chr6:78842635-78842636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34981250	chr6:78842647-78842648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6901875	chr6:78842652-78842653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552779151	chr6:78842656-78842657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571109314	chr6:78842701-78842702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114165248	chr6:78842754-78842755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551122637	chr6:78842821-78842822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571494716	chr6:78842822-78842823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35766355	chr6:78842825-78842826	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4510627	chr6:78842892-78842893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185269361	chr6:78842933-78842934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536299449	chr6:78842940-78842941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373657160	chr6:78842962-78842963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553041406	chr6:78842971-78842972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199512797	chr6:78843023-78843024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112522531	chr6:78843046-78843047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538627627	chr6:78843062-78843063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559861591	chr6:78843085-78843086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574615681	chr6:78843107-78843108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145041073	chr6:78843110-78843111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188588638	chr6:78843111-78843112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555101337	chr6:78843147-78843148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575085217	chr6:78843164-78843165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs192655128	chr6:78843168-78843169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs559472816	chr6:78843204-78843205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs115263393	chr6:78843211-78843212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs13210263	chr6:78843251-78843252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs13210384	chr6:78843252-78843253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112523360	chr6:78843258-78843259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564741987	chr6:78843263-78843264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530791501	chr6:78843264-78843265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Lung cancer	18438408	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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78841200-78842600	Enhancers	Stomach Mucosa	stomach
2	chr6:78841600-78842600	Enhancers	Fetal Intestine Large	intestine
3	chr6:78841600-78842600	Enhancers	HepG2	liver
4	chr6:78842000-78842600	Weak transcription	Pancreas	Pancrea
5	chr6:78842000-78842800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:78842600-78842800	Enhancers	Pancreas	Pancrea
7	chr6:78842800-78844000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:78849400-78852800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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