Variant report

Variant	nsv523048
Chromosome Location	chr8:64016881-64023705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:64015519..64018210-chr8:64080203..64082680,2	K562	blood:
2	chr8:64017039..64019542-chr8:64021358..64023384,2	K562	blood:
3	chr8:63883110..63885219-chr8:64022208..64024652,2	K562	blood:
4	chr8:64017039..64019542-chr8:64021358..64023384,2	K562	blood:

Variant related genes	Relation type
ENSG00000185728	chromatin interactions
ENSG00000270673	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2353903	chr8:64016881-64016882	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369197350	chr8:64016897-64016898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148330242	chr8:64016915-64016916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555530289	chr8:64016935-64016936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573777626	chr8:64016943-64016944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79008318	chr8:64016979-64016980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562506527	chr8:64017002-64017003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546516241	chr8:64017109-64017110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184811092	chr8:64017118-64017119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs67833679	chr8:64017129-64017130	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528498731	chr8:64017130-64017131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559232864	chr8:64017188-64017189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10957271	chr8:64017191-64017192	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs546565929	chr8:64017234-64017235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568259820	chr8:64017273-64017274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs111230520	chr8:64017305-64017306	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529359295	chr8:64017416-64017417	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190135619	chr8:64017421-64017422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569304237	chr8:64017429-64017430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376692333	chr8:64017435-64017436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540146836	chr8:64017444-64017445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs61144659	chr8:64017484-64017485	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6996155	chr8:64017485-64017486	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533818328	chr8:64017538-64017539	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555393897	chr8:64017541-64017542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537875988	chr8:64017560-64017561	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6996325	chr8:64017561-64017562	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142844145	chr8:64017571-64017572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs16930185	chr8:64017615-64017616	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150800700	chr8:64017645-64017646	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs377012162	chr8:64017648-64017649	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560041927	chr8:64017681-64017682	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs556824645	chr8:64017724-64017725	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs181819152	chr8:64017739-64017740	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570348224	chr8:64017756-64017757	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540271836	chr8:64017775-64017776	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs561706286	chr8:64017785-64017786	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555959975	chr8:64017818-64017819	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529390849	chr8:64017879-64017880	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs78493448	chr8:64017894-64017895	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540221286	chr8:64017899-64017900	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs73272469	chr8:64017908-64017909	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs184855571	chr8:64017934-64017935	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561648388	chr8:64017957-64017958	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567212453	chr8:64017986-64017987	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs78137454	chr8:64018009-64018010	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs73684565	chr8:64018023-64018024	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567125944	chr8:64018042-64018043	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537964226	chr8:64018056-64018057	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs55914406	chr8:64018081-64018082	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64016000-64017600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:64017600-64018000	Enhancers	Fetal Muscle Leg	muscle
3	chr8:64022200-64022400	Enhancers	Fetal Intestine Small	intestine
4	chr8:64022400-64023600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:64023400-64023600	Enhancers	Fetal Intestine Large	intestine
6	chr8:64023600-64024000	Enhancers	Fetal Intestine Small	intestine

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