Variant report

Variant	esv1817953
Chromosome Location	chr6:144197021-144199759
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: 85 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567425454	chr6:144197045-144197046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181714313	chr6:144197059-144197060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569454350	chr6:144197095-144197096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533406984	chr6:144197145-144197146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs183907814	chr6:144197196-144197197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536594224	chr6:144197227-144197228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139711423	chr6:144197289-144197290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7774356	chr6:144197312-144197313	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34277233	chr6:144197372-144197373	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35450923	chr6:144197375-144197376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7774381	chr6:144197402-144197403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7774531	chr6:144197418-144197419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556081510	chr6:144197454-144197455	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56113377	chr6:144197476-144197477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538930969	chr6:144197517-144197518	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554036444	chr6:144197521-144197522	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532306880	chr6:144197528-144197529	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112111913	chr6:144197578-144197579	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188683998	chr6:144197623-144197624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562064095	chr6:144197643-144197644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181335619	chr6:144197648-144197649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7760688	chr6:144197681-144197682	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373757405	chr6:144197687-144197688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150837153	chr6:144197742-144197743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185972762	chr6:144197759-144197760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551639091	chr6:144197834-144197835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560351335	chr6:144197898-144197899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190796646	chr6:144197946-144197947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182354317	chr6:144197982-144197983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549505474	chr6:144198028-144198029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567256662	chr6:144198055-144198056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs202076596	chr6:144198078-144198079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572208396	chr6:144198089-144198090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371310373	chr6:144198127-144198128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549557335	chr6:144198142-144198143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs80292251	chr6:144198181-144198182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537084769	chr6:144198190-144198191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538968166	chr6:144198198-144198199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555193171	chr6:144198204-144198205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376647628	chr6:144198255-144198256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75750442	chr6:144198277-144198278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372792017	chr6:144198404-144198405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374672991	chr6:144198409-144198410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34994479	chr6:144198436-144198437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145458851	chr6:144198479-144198480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554709777	chr6:144198488-144198489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112824622	chr6:144198489-144198490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111685014	chr6:144198498-144198499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562572716	chr6:144198504-144198505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577601727	chr6:144198513-144198514	Weak transcription	Chromatin interactive region	1 gene(s)	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:10 , 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	chr6:144196600-144197200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:144197200-144197600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:144198600-144200200	Enhancers	Placenta	Placenta
7	chr6:144199000-144200000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:144199400-144199600	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr6:144199400-144199600	ZNF genes & repeats	Left Ventricle	heart
10	chr6:144199400-144200000	Enhancers	Hela-S3	cervix

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