Variant report

Variant	nsv8379
Chromosome Location	chr8:119212537-119216545
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	chr8:119209093..119211365-chr8:119212463..119213987,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2451170	chr8:119212555-119212556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75768997	chr8:119212561-119212562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2514940	chr8:119212578-119212579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11562802	chr8:119212592-119212593	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188089992	chr8:119212606-119212607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148422769	chr8:119212618-119212619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374462170	chr8:119212619-119212620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532631150	chr8:119212621-119212622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552147623	chr8:119212638-119212639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35465667	chr8:119212643-119212644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74463721	chr8:119212645-119212646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79054113	chr8:119212646-119212647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79625272	chr8:119212647-119212648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570494064	chr8:119212683-119212684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534697646	chr8:119212689-119212690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552716053	chr8:119212719-119212720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72675841	chr8:119212725-119212726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557153157	chr8:119212811-119212812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371338683	chr8:119212907-119212908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535374841	chr8:119212913-119212914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36009921	chr8:119213047-119213048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193079545	chr8:119213089-119213090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535731509	chr8:119213097-119213098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576389991	chr8:119213098-119213099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543502487	chr8:119213128-119213129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558904637	chr8:119213129-119213130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144113631	chr8:119213144-119213145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541516362	chr8:119213166-119213167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145996266	chr8:119213198-119213199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530276356	chr8:119213199-119213200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139995273	chr8:119213204-119213205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570567083	chr8:119213246-119213247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563873097	chr8:119213248-119213249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17484817	chr8:119213322-119213323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555828253	chr8:119213336-119213337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17451942	chr8:119213376-119213377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184595816	chr8:119213436-119213437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546253169	chr8:119213508-119213509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189361786	chr8:119213520-119213521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535227980	chr8:119213578-119213579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181935033	chr8:119213585-119213586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143487721	chr8:119213586-119213587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183648064	chr8:119213703-119213704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539704488	chr8:119213704-119213705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10955864	chr8:119213727-119213728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371968389	chr8:119213737-119213738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189427146	chr8:119213742-119213743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181078444	chr8:119213852-119213853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376854657	chr8:119214002-119214003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186436736	chr8:119214005-119214006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
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
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119200800-119218800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:119203800-119215200	Weak transcription	Liver	Liver
3	chr8:119206400-119214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:119206600-119214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:119208200-119213200	Weak transcription	Right Ventricle	heart
6	chr8:119208400-119213000	Weak transcription	Spleen	Spleen
7	chr8:119208400-119214600	Weak transcription	Lung	lung
8	chr8:119208400-119292400	Weak transcription	Pancreas	Pancrea
9	chr8:119208600-119213000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:119208600-119214600	Weak transcription	Left Ventricle	heart
11	chr8:119208600-119214600	Weak transcription	Right Atrium	heart
12	chr8:119208600-119217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:119208800-119213400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:119209000-119214000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:119209200-119213200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:119209200-119213200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:119209200-119214000	Weak transcription	HSMMtube	muscle
18	chr8:119209200-119219000	Weak transcription	NHEK	skin
19	chr8:119209400-119213800	Weak transcription	HUVEC	blood vessel
20	chr8:119209600-119214400	Weak transcription	Ovary	ovary
21	chr8:119209600-119219000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:119209800-119214000	Weak transcription	NH-A	brain
23	chr8:119209800-119214600	Weak transcription	NHLF	lung
24	chr8:119210000-119213800	Weak transcription	NHDF-Ad	bronchial
25	chr8:119210000-119214400	Weak transcription	HSMM	muscle
26	chr8:119210200-119214400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:119210400-119214000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:119210400-119214000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:119210400-119214000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:119210400-119214000	Weak transcription	Adipose Nuclei	Adipose
31	chr8:119210400-119214000	Weak transcription	Osteobl	bone
32	chr8:119210400-119214200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:119210400-119216400	Weak transcription	Aorta	Aorta
34	chr8:119210600-119213800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:119211800-119221600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:119212400-119212600	Enhancers	Fetal Heart	heart
37	chr8:119212600-119213400	Weak transcription	Fetal Heart	heart
38	chr8:119212800-119213000	Enhancers	Psoas Muscle	Psoas
39	chr8:119213000-119213200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:119213000-119213600	Enhancers	Spleen	Spleen
41	chr8:119213000-119214600	Weak transcription	Psoas Muscle	Psoas
42	chr8:119213200-119213600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:119213200-119213600	Enhancers	Fetal Thymus	thymus
44	chr8:119213200-119213600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:119213200-119213800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:119213200-119214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:119213200-119215800	Enhancers	Right Ventricle	heart
48	chr8:119213400-119213600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:119213400-119216600	Enhancers	Fetal Heart	heart
50	chr8:119213600-119214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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