Variant report

Variant	esv3331342
Chromosome Location	chr8:106894276-106896474
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	chr8:106894712..106896859-chr8:106900019..106901770,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550920746	chr8:106894311-106894312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569311748	chr8:106894333-106894334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184345088	chr8:106894344-106894345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140231794	chr8:106894379-106894380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574916874	chr8:106894380-106894381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4529432	chr8:106894419-106894420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536070884	chr8:106894422-106894423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554165017	chr8:106894460-106894461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35422243	chr8:106894495-106894496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142981866	chr8:106894568-106894569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564428051	chr8:106894569-106894570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576530464	chr8:106894601-106894602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543520803	chr8:106894603-106894604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73310939	chr8:106894647-106894648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73698357	chr8:106894684-106894685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530181896	chr8:106894688-106894689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151108245	chr8:106894692-106894693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555932391	chr8:106894698-106894699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116197968	chr8:106894781-106894782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189229313	chr8:106894783-106894784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192394263	chr8:106894784-106894785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139693010	chr8:106894785-106894786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550283447	chr8:106894788-106894789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537862270	chr8:106894901-106894902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375881071	chr8:106894903-106894904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537084279	chr8:106894946-106894947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374330788	chr8:106894953-106894954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184557958	chr8:106894984-106894985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567399355	chr8:106895001-106895002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62525687	chr8:106895065-106895066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28571661	chr8:106895173-106895174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145782229	chr8:106895176-106895177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574501895	chr8:106895196-106895197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540112001	chr8:106895208-106895209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201733150	chr8:106895227-106895228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558506536	chr8:106895229-106895230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200624814	chr8:106895274-106895275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576492310	chr8:106895290-106895291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140608570	chr8:106895295-106895296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368593813	chr8:106895297-106895298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181335020	chr8:106895310-106895311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143409049	chr8:106895323-106895324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541177102	chr8:106895327-106895328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559092809	chr8:106895351-106895352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146730465	chr8:106895453-106895454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544887818	chr8:106895537-106895538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563269479	chr8:106895648-106895649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185027303	chr8:106895712-106895713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549001870	chr8:106895727-106895728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200084414	chr8:106895777-106895778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106893400-106895800	Weak transcription	Hela-S3	cervix
2	chr8:106894000-106894400	Enhancers	Fetal Intestine Small	intestine
3	chr8:106895400-106896200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:106895800-106896400	Enhancers	Hela-S3	cervix
5	chr8:106895800-106896400	Enhancers	NH-A	brain
6	chr8:106896000-106896800	Enhancers	Osteobl	bone
7	chr8:106896200-106896400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:106896200-106896400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:106896200-106896400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:106896200-106896400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:106896400-106897400	Weak transcription	NH-A	brain
12	chr8:106896400-106897600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:106896400-106897600	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:106896400-106898600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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