Variant report

Variant	nsv890960
Chromosome Location	chr8:63516962-63629549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63605230..63606982-chr8:63607135..63609318,2	K562	blood:
2	chr8:63569973..63571607-chr8:63575759..63577300,2	K562	blood:
3	chr8:63527941..63530120-chr8:63530603..63532460,2	K562	blood:
4	chr8:63585003..63587129-chr8:63588724..63590696,2	K562	blood:
5	chr8:63585003..63587129-chr8:63588724..63590696,2	K562	blood:
6	chr8:63519763..63521581-chr8:63531929..63534148,2	MCF-7	breast:
7	chr8:63544521..63545096-chr8:63924008..63924706,2	MCF-7	breast:
8	chr8:63569973..63571607-chr8:63575759..63577300,2	K562	blood:
9	chr8:63519763..63521581-chr8:63531929..63534148,2	MCF-7	breast:
10	chr1:223840874..223841758-chr8:63546888..63547676,2	MCF-7	breast:
11	chr8:63605230..63606982-chr8:63607135..63609318,2	K562	blood:
12	chr8:63527941..63530120-chr8:63530603..63532460,2	K562	blood:

No data

Extended variants
information (count: 3711 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3711 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1383196	chr8:63516962-63516963	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112412997	chr8:63516971-63516972	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182561548	chr8:63516987-63516988	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370074731	chr8:63516999-63517000	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575289575	chr8:63517097-63517098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557391692	chr8:63517114-63517115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186187036	chr8:63517128-63517129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143162348	chr8:63517206-63517207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571000793	chr8:63517207-63517208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540381731	chr8:63517218-63517219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1871592	chr8:63517243-63517244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368456206	chr8:63517291-63517292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191643812	chr8:63517297-63517298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183928078	chr8:63517299-63517300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189021681	chr8:63517304-63517305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567358393	chr8:63517367-63517368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372117141	chr8:63517421-63517422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552165435	chr8:63517535-63517536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570565895	chr8:63517544-63517545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4374986	chr8:63517575-63517576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11988612	chr8:63517618-63517619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568546595	chr8:63517644-63517645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536074791	chr8:63517671-63517672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368481804	chr8:63517694-63517695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114952034	chr8:63517698-63517699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569276327	chr8:63517702-63517703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182145089	chr8:63517761-63517762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545774960	chr8:63517777-63517778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573205951	chr8:63517827-63517828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557789473	chr8:63517909-63517910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62509500	chr8:63517954-63517955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372295914	chr8:63517961-63517962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539941249	chr8:63517973-63517974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191769828	chr8:63517994-63517995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75982087	chr8:63518016-63518017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562131854	chr8:63518021-63518022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183805668	chr8:63518032-63518033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34024245	chr8:63518056-63518057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188964254	chr8:63518076-63518077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138753115	chr8:63518094-63518095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369043347	chr8:63518118-63518119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73260908	chr8:63518218-63518219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368086391	chr8:63518262-63518263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193087521	chr8:63518364-63518365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564570277	chr8:63518382-63518383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185732731	chr8:63518387-63518388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546756996	chr8:63518388-63518389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533204565	chr8:63518446-63518447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190557716	chr8:63518453-63518454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568562116	chr8:63518469-63518470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63515000-63518000	Enhancers	Fetal Lung	lung
2	chr8:63515600-63517000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:63516000-63519200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:63516200-63517000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:63516200-63517000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:63516200-63517000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:63516200-63517000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:63516200-63517000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:63516200-63517000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:63516200-63517000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:63516200-63517000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr8:63516200-63517000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:63516200-63517200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:63516600-63517000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:63516800-63517000	Enhancers	Fetal Brain Female	brain
16	chr8:63516800-63518600	Weak transcription	Fetal Kidney	kidney
17	chr8:63517000-63517200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:63517000-63518400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:63517000-63518600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:63517000-63518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:63517000-63518600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:63517000-63518600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:63517000-63521400	Weak transcription	Fetal Brain Female	brain
24	chr8:63517200-63518600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:63517200-63518800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:63517400-63517600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:63517600-63519800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:63518000-63518400	Weak transcription	Fetal Lung	lung
29	chr8:63518400-63519600	Enhancers	Fetal Lung	lung
30	chr8:63518600-63518800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:63518600-63518800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:63518600-63518800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:63518600-63519000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:63518600-63519000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:63518600-63519000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:63518600-63519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:63518600-63519000	Enhancers	Fetal Kidney	kidney
38	chr8:63518600-63519200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:63518800-63519000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:63518800-63519000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:63518800-63519000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:63518800-63519200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:63518800-63519600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:63519000-63519600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:63519600-63521800	Weak transcription	Fetal Lung	lung
46	chr8:63519800-63520000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:63520800-63522600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:63521400-63521800	Enhancers	Fetal Brain Female	brain
49	chr8:63521600-63522600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:63521800-63522400	Enhancers	Fetal Lung	lung

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