Variant report

Variant	esv10313
Chromosome Location	chr6:144195319-144199855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144196775..144199655-chr6:144207316..144209888,2	K562	blood:

Variant related genes	Relation type
ENSG00000118491	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145063820	chr6:144195330-144195331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371372568	chr6:144195383-144195384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537111556	chr6:144195387-144195388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572702361	chr6:144195394-144195395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552647823	chr6:144195450-144195451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570858907	chr6:144195472-144195473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200737141	chr6:144195476-144195477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541713334	chr6:144195480-144195481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535371997	chr6:144195485-144195486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145702518	chr6:144195553-144195554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190795692	chr6:144195574-144195575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536048541	chr6:144195596-144195597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557231331	chr6:144195629-144195630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148966475	chr6:144195659-144195660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6912488	chr6:144195724-144195725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563766867	chr6:144195731-144195732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572490593	chr6:144195813-144195814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182666274	chr6:144195817-144195818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575106121	chr6:144195843-144195844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561671545	chr6:144195869-144195870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546345546	chr6:144195875-144195876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9496790	chr6:144195900-144195901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116566379	chr6:144195937-144195938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147615882	chr6:144195945-144195946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531082872	chr6:144195975-144195976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113521986	chr6:144195982-144195983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74924498	chr6:144196012-144196013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146197833	chr6:144196028-144196029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535037738	chr6:144196045-144196046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546966779	chr6:144196057-144196058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9484820	chr6:144196064-144196065	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535763910	chr6:144196082-144196083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557578676	chr6:144196089-144196090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367562254	chr6:144196095-144196096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575727282	chr6:144196103-144196104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375889147	chr6:144196137-144196138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200967941	chr6:144196144-144196145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187267398	chr6:144196175-144196176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191355963	chr6:144196189-144196190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572576454	chr6:144196190-144196191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138957194	chr6:144196215-144196216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4527727	chr6:144196260-144196261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141331143	chr6:144196283-144196284	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184302286	chr6:144196318-144196319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544177866	chr6:144196355-144196356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4379307	chr6:144196358-144196359	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532995238	chr6:144196430-144196431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545193844	chr6:144196567-144196568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564572274	chr6:144196568-144196569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150307652	chr6:144196630-144196631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144178800-144203800	Weak transcription	Stomach Mucosa	stomach
2	chr6:144186000-144223000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:144187600-144199400	Weak transcription	Left Ventricle	heart
4	chr6:144196000-144196600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:144196600-144197200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:144197200-144197600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:144198600-144200200	Enhancers	Placenta	Placenta
8	chr6:144199000-144200000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:144199400-144199600	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr6:144199400-144199600	ZNF genes & repeats	Left Ventricle	heart
11	chr6:144199400-144200000	Enhancers	Hela-S3	cervix

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