Variant report

Variant	esv3337253
Chromosome Location	chr8:106226076-106227974
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	chr8:106224560..106226478-chr8:106234242..106236875,2	K562	blood:
2	chr8:106224825..106226678-chr8:106784530..106787162,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376461304	chr8:106226086-106226087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544231272	chr8:106226097-106226098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200257895	chr8:106226149-106226150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553004491	chr8:106226166-106226167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564504457	chr8:106226167-106226168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139762987	chr8:106226215-106226216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60663658	chr8:106226227-106226228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573467673	chr8:106226267-106226268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138739722	chr8:106226273-106226274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370796895	chr8:106226277-106226278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540873952	chr8:106226278-106226279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369176376	chr8:106226304-106226305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565499781	chr8:106226308-106226309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577548954	chr8:106226318-106226319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544799953	chr8:106226394-106226395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28472958	chr8:106226415-106226416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28497497	chr8:106226416-106226417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200774902	chr8:106226472-106226473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192846030	chr8:106226480-106226481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562620176	chr8:106226505-106226506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529788229	chr8:106226538-106226539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547889823	chr8:106226577-106226578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114489084	chr8:106226580-106226581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527614046	chr8:106226599-106226600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532310552	chr8:106226633-106226634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146066210	chr8:106226676-106226677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570395893	chr8:106226778-106226779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3066070	chr8:106226790-106226791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374578427	chr8:106226791-106226792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71864897	chr8:106226802-106226803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397772274	chr8:106226810-106226811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148724076	chr8:106226814-106226815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112386842	chr8:106226824-106226825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201704926	chr8:106226827-106226828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549559112	chr8:106226830-106226831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200510986	chr8:106226843-106226844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112416576	chr8:106226849-106226850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569289933	chr8:106226865-106226866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62525287	chr8:106226880-106226881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554669441	chr8:106226888-106226889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536223841	chr8:106226891-106226892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62525288	chr8:106226901-106226902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548383209	chr8:106226955-106226956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377107787	chr8:106227035-106227036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534239720	chr8:106227113-106227114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559322487	chr8:106227128-106227129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182724086	chr8:106227162-106227163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544860843	chr8:106227187-106227188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77409739	chr8:106227245-106227246	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142263659	chr8:106227249-106227250	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106225400-106227200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:106227000-106227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:106227000-106228000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:106227000-106228000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:106227200-106227600	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:106227200-106227600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr8:106227600-106228600	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links