Variant report

Variant	esv2573369
Chromosome Location	chr6:164014422-164015884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164015543..164017705-chr6:164019767..164021884,2	K562	blood:
2	chr6:164015543..164019419-chr6:164019767..164023653,5	K562	blood:
3	chr6:164010756..164012462-chr6:164013276..164015436,2	K562	blood:
4	chr6:164012843..164014489-chr6:164039863..164041950,2	K562	blood:
5	chr6:164001758..164003357-chr6:164013083..164015410,2	K562	blood:
6	chr6:164008310..164010271-chr6:164015070..164017257,2	K562	blood:

Variant related genes	Relation type
ENSG00000228692	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56118164	chr6:164015088-164015089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs59123609	chr6:164015089-164015090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13219840	chr6:164015110-164015111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574536612	chr6:164015143-164015144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13205043	chr6:164015153-164015154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13219860	chr6:164015154-164015155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13219934	chr6:164015168-164015169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13205156	chr6:164015175-164015176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542152316	chr6:164015181-164015182	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13208502	chr6:164015201-164015202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574870299	chr6:164015229-164015230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13205179	chr6:164015232-164015233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560734239	chr6:164015240-164015241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371676729	chr6:164015245-164015246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539963993	chr6:164015275-164015276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375074340	chr6:164015301-164015302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12216192	chr6:164015320-164015321	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs58228951	chr6:164015388-164015389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370149829	chr6:164015389-164015390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs180753766	chr6:164015456-164015457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113864455	chr6:164015487-164015488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186094365	chr6:164015488-164015489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12202352	chr6:164015506-164015507	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529623244	chr6:164015531-164015532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567554503	chr6:164015561-164015562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374572313	chr6:164015568-164015569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190217987	chr6:164015589-164015590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546818413	chr6:164015593-164015594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564468746	chr6:164015620-164015621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182357296	chr6:164015642-164015643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377740671	chr6:164015738-164015739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538471963	chr6:164015743-164015744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558412794	chr6:164015806-164015807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575159334	chr6:164015813-164015814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547918367	chr6:164015824-164015825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537769398	chr6:164015828-164015829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567501225	chr6:164015867-164015868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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