Variant report

Variant	nsv6231
Chromosome Location	chr8:65538593-65583623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:65564209..65567167-chr8:65568226..65570399,2	K562	blood:
2	chr8:65564209..65567167-chr8:65568226..65570399,2	K562	blood:
3	chr8:65579416..65581773-chr8:65583338..65585855,2	MCF-7	breast:
4	chr8:65579416..65581773-chr8:65583338..65585855,2	MCF-7	breast:

Extended variants
information (count: 899 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:899 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544434788	chr8:65538670-65538671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562958579	chr8:65538699-65538700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578176887	chr8:65538714-65538715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187954622	chr8:65538721-65538722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560456831	chr8:65538730-65538731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551622364	chr8:65538731-65538732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115377437	chr8:65538749-65538750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564923953	chr8:65538858-65538859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561397168	chr8:65538986-65538987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371994366	chr8:65539012-65539013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572988839	chr8:65539027-65539028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530629057	chr8:65539097-65539098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550588794	chr8:65539115-65539116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549920111	chr8:65539275-65539276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571355982	chr8:65539286-65539287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376835339	chr8:65539375-65539376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60347741	chr8:65539376-65539377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547413306	chr8:65539449-65539450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535753890	chr8:65539519-65539520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565331595	chr8:65539554-65539555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535869392	chr8:65539593-65539594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554225122	chr8:65539642-65539643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569380566	chr8:65539736-65539737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs41333745	chr8:65539743-65539744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556672733	chr8:65539770-65539771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578118920	chr8:65539826-65539827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545675419	chr8:65539827-65539828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554216324	chr8:65539836-65539837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572449814	chr8:65539886-65539887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35235601	chr8:65539904-65539905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543078665	chr8:65540025-65540026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182494890	chr8:65540035-65540036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531792891	chr8:65540171-65540172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77702910	chr8:65540220-65540221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566260880	chr8:65540224-65540225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369194927	chr8:65540227-65540228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186682219	chr8:65540252-65540253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139845310	chr8:65540254-65540255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149830576	chr8:65540290-65540291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565670073	chr8:65540345-65540346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542990243	chr8:65540359-65540360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577675638	chr8:65540367-65540368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191481665	chr8:65540389-65540390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547758624	chr8:65540416-65540417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569315603	chr8:65540421-65540422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537111044	chr8:65540454-65540455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558410159	chr8:65540458-65540459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571809577	chr8:65540466-65540467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538890851	chr8:65540475-65540476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554491432	chr8:65540561-65540562	Enhancers Weak transcription	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
Adenoid cystic carcinoma	18332873	CNVD
Autism	20531469	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65499800-65553000	Weak transcription	Pancreas	Pancrea
2	chr8:65517200-65540000	Weak transcription	Fetal Stomach	stomach
3	chr8:65517200-65540200	Weak transcription	Fetal Lung	lung
4	chr8:65517400-65540800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:65523200-65542400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:65527800-65542400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:65530000-65539800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:65535200-65542200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:65536200-65540200	Weak transcription	Ovary	ovary
10	chr8:65536200-65547600	Weak transcription	Liver	Liver
11	chr8:65538400-65538800	Enhancers	Fetal Kidney	kidney
12	chr8:65538600-65539600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:65538800-65540200	Weak transcription	Fetal Kidney	kidney
14	chr8:65539800-65540000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:65540000-65540200	Enhancers	Fetal Stomach	stomach
16	chr8:65540000-65540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:65540000-65540600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:65540200-65540400	Enhancers	Ovary	ovary
19	chr8:65540200-65540600	Enhancers	Fetal Kidney	kidney
20	chr8:65540200-65541000	Enhancers	Fetal Lung	lung
21	chr8:65540400-65540600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:65540400-65541200	Enhancers	Small Intestine	intestine
23	chr8:65540600-65542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:65540600-65542400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:65540800-65541200	Enhancers	Fetal Muscle Leg	muscle
26	chr8:65542200-65543000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:65542200-65543200	Enhancers	GM12878-XiMat	blood
28	chr8:65542200-65543400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:65542200-65543600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:65542200-65543600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:65542200-65543600	Enhancers	NHEK	skin
32	chr8:65542200-65543800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:65542200-65543800	Enhancers	HMEC	breast
34	chr8:65542400-65543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:65542400-65543600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:65542400-65543600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:65542400-65543600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:65542400-65543800	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:65542400-65543800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:65542600-65543600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:65543000-65543800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:65543200-65543800	Flanking Active TSS	GM12878-XiMat	blood
43	chr8:65543400-65547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:65543600-65545200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:65543600-65545600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:65543600-65545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:65543600-65545600	Weak transcription	NHEK	skin
48	chr8:65543800-65544600	Enhancers	GM12878-XiMat	blood
49	chr8:65543800-65545400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:65544600-65545400	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links