Variant report

Variant	esv1815342
Chromosome Location	chr6:144196637-144199759
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: 110 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568358813	chr6:144196665-144196666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113606318	chr6:144196676-144196677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199875263	chr6:144196677-144196678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529617974	chr6:144196681-144196682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137902514	chr6:144196706-144196707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112737586	chr6:144196713-144196714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539667088	chr6:144196731-144196732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187660656	chr6:144196781-144196782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566240873	chr6:144196790-144196791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533634158	chr6:144196808-144196809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566229084	chr6:144196830-144196831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555389682	chr6:144196831-144196832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573537762	chr6:144196851-144196852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs193204669	chr6:144196858-144196859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538726823	chr6:144196893-144196894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556203202	chr6:144196906-144196907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577962820	chr6:144196944-144196945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371865235	chr6:144196963-144196964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545232621	chr6:144196970-144196971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7773847	chr6:144196975-144196976	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528642366	chr6:144196977-144196978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540708495	chr6:144196986-144196987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185600106	chr6:144196990-144196991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7773870	chr6:144197005-144197006	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188913203	chr6:144197011-144197012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567425454	chr6:144197045-144197046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181714313	chr6:144197059-144197060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569454350	chr6:144197095-144197096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533406984	chr6:144197145-144197146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183907814	chr6:144197196-144197197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536594224	chr6:144197227-144197228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139711423	chr6:144197289-144197290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7774356	chr6:144197312-144197313	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34277233	chr6:144197372-144197373	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35450923	chr6:144197375-144197376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7774381	chr6:144197402-144197403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7774531	chr6:144197418-144197419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556081510	chr6:144197454-144197455	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56113377	chr6:144197476-144197477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538930969	chr6:144197517-144197518	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554036444	chr6:144197521-144197522	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532306880	chr6:144197528-144197529	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112111913	chr6:144197578-144197579	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188683998	chr6:144197623-144197624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562064095	chr6:144197643-144197644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181335619	chr6:144197648-144197649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7760688	chr6:144197681-144197682	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373757405	chr6:144197687-144197688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150837153	chr6:144197742-144197743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185972762	chr6:144197759-144197760	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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