Variant report

Variant	nsv516674
Chromosome Location	chr8:107944671-107955559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107948303..107950286-chr8:107953514..107955561,2	K562	blood:
2	chr8:107942969..107944882-chr8:107947397..107950268,2	MCF-7	breast:
3	chr8:107948303..107950286-chr8:107953514..107955561,2	K562	blood:
4	chr8:107942969..107944882-chr8:107947397..107950268,2	MCF-7	breast:

Extended variants
information (count: 423 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4397377	chr8:107944671-107944672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2447235	chr8:107944678-107944679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4628237	chr8:107944731-107944732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1002902	chr8:107944767-107944768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548491411	chr8:107944785-107944786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11998230	chr8:107944808-107944809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs556673000	chr8:107944894-107944895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188369562	chr8:107944941-107944942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539427809	chr8:107944942-107944943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537703181	chr8:107944948-107944949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1002901	chr8:107944965-107944966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141676778	chr8:107944966-107944967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180673222	chr8:107944979-107944980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545690305	chr8:107944992-107944993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186456732	chr8:107945023-107945024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2447234	chr8:107945064-107945065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543412314	chr8:107945092-107945093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543143930	chr8:107945096-107945097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561435942	chr8:107945111-107945112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528876553	chr8:107945149-107945150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546939696	chr8:107945191-107945192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146176706	chr8:107945202-107945203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111513040	chr8:107945242-107945243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528025138	chr8:107945262-107945263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552588879	chr8:107945278-107945279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55669016	chr8:107945357-107945358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs55976003	chr8:107945361-107945362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139118668	chr8:107945370-107945371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190990658	chr8:107945405-107945406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568537978	chr8:107945442-107945443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555663309	chr8:107945446-107945447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535854844	chr8:107945471-107945472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142958398	chr8:107945512-107945513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573987750	chr8:107945540-107945541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374181502	chr8:107945548-107945549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575112981	chr8:107945557-107945558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181744712	chr8:107945585-107945586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552726047	chr8:107945625-107945626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2447233	chr8:107945698-107945699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56389527	chr8:107945704-107945705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186674449	chr8:107945716-107945717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191566936	chr8:107945719-107945720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573358463	chr8:107945720-107945721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78193774	chr8:107945755-107945756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151119603	chr8:107945864-107945865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532767537	chr8:107945880-107945881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139836187	chr8:107945937-107945938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1462006	chr8:107945977-107945978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149646103	chr8:107945979-107945980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531964541	chr8:107946014-107946015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107938200-107951400	Weak transcription	NHLF	lung
2	chr8:107938600-107946600	Weak transcription	Aorta	Aorta
3	chr8:107939600-107947200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:107943200-107947400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:107946600-107947400	Strong transcription	Aorta	Aorta
6	chr8:107947200-107947600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:107947200-107947800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:107947400-107947600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:107947400-107947800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:107947400-107948200	Enhancers	HUVEC	blood vessel
11	chr8:107947400-107952000	Weak transcription	Aorta	Aorta
12	chr8:107947600-107947800	Enhancers	NHDF-Ad	bronchial
13	chr8:107947600-107948000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:107947600-107948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:107947800-107948000	Enhancers	A549	lung
16	chr8:107947800-107951200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:107947800-107951200	Weak transcription	NHDF-Ad	bronchial
18	chr8:107948000-107951400	Weak transcription	A549	lung
19	chr8:107948200-107948600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:107951200-107951800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:107951200-107952200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:107951200-107952200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:107951200-107952200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:107951200-107952200	Enhancers	NHDF-Ad	bronchial
25	chr8:107951200-107952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:107951200-107952400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:107951200-107952400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:107951200-107952400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:107951200-107952400	Enhancers	HMEC	breast
30	chr8:107951200-107952400	Enhancers	NHEK	skin
31	chr8:107951200-107952400	Enhancers	Osteobl	bone
32	chr8:107951200-107952600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:107951200-107952800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:107951400-107951800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:107951400-107952200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:107951400-107952200	Enhancers	NHLF	lung
37	chr8:107951400-107952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:107951400-107952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:107951400-107952400	Enhancers	A549	lung
40	chr8:107951400-107952400	Enhancers	HSMM	muscle
41	chr8:107951400-107952400	Enhancers	NH-A	brain
42	chr8:107952000-107952400	Enhancers	Aorta	Aorta
43	chr8:107952400-107953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:107952400-107953400	Weak transcription	NHEK	skin
45	chr8:107952400-107955200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:107952400-107955800	Weak transcription	Osteobl	bone
47	chr8:107952400-107957400	Weak transcription	Aorta	Aorta
48	chr8:107952600-107958800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:107952800-107953200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:107953200-107954400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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