Variant report

Variant	nsv971349
Chromosome Location	chr8:121775521-121779407
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	chr8:121777510..121779524-chr8:121820645..121822626,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTBP-1	chr8:121778018-121778104	ENSG00000248318.1

Extended variants
information (count: 144 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367981814	chr8:121775529-121775530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59760493	chr8:121775530-121775531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs28690890	chr8:121775579-121775580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145457880	chr8:121775602-121775603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531514815	chr8:121775638-121775639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73323189	chr8:121775690-121775691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376022921	chr8:121775726-121775727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185098742	chr8:121775751-121775752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574946393	chr8:121775822-121775823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190424519	chr8:121775823-121775824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547459700	chr8:121775833-121775834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147654572	chr8:121775842-121775843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182566467	chr8:121775844-121775845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528022200	chr8:121775861-121775862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549638058	chr8:121775892-121775893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115152241	chr8:121775949-121775950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200845344	chr8:121775984-121775985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75813730	chr8:121775997-121775998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58183270	chr8:121776028-121776029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs398096104	chr8:121776037-121776038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199545796	chr8:121776038-121776039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556385057	chr8:121776052-121776053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187180645	chr8:121776065-121776066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375691829	chr8:121776066-121776067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61037568	chr8:121776076-121776077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200644339	chr8:121776077-121776078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538737376	chr8:121776088-121776089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13272947	chr8:121776095-121776096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs59631348	chr8:121776134-121776135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539873316	chr8:121776135-121776136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542587565	chr8:121776142-121776143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367907977	chr8:121776145-121776146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377075114	chr8:121776178-121776179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368549607	chr8:121776232-121776233	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576177302	chr8:121776249-121776250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59880693	chr8:121776262-121776263	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565066525	chr8:121776301-121776302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189836275	chr8:121776368-121776369	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541108354	chr8:121776385-121776386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75121673	chr8:121776387-121776388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144890071	chr8:121776389-121776390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549432988	chr8:121776400-121776401	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567901916	chr8:121776441-121776442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180788733	chr8:121776465-121776466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531821316	chr8:121776508-121776509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151334416	chr8:121776538-121776539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77966095	chr8:121776570-121776571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371524745	chr8:121776589-121776590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140540528	chr8:121776595-121776596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185542927	chr8:121776596-121776597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
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
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121761200-121789400	Weak transcription	Fetal Kidney	kidney
2	chr8:121763200-121781600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:121764400-121780200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:121767800-121780400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:121769200-121786400	Weak transcription	Placenta	Placenta
6	chr8:121769800-121788400	Weak transcription	Gastric	stomach
7	chr8:121770000-121775800	Enhancers	Liver	Liver
8	chr8:121770000-121777400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:121770000-121786600	Weak transcription	Thymus	Thymus
10	chr8:121770200-121788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:121770200-121797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:121770200-121798600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:121770600-121780400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:121771000-121776600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:121771000-121777200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:121771000-121780400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:121771000-121782000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:121772200-121777400	Enhancers	HepG2	liver
19	chr8:121773000-121781600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:121773400-121782200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:121773800-121776800	Enhancers	NHLF	lung
22	chr8:121773800-121777000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:121774200-121775600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:121774800-121776000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:121774800-121776000	Weak transcription	Esophagus	oesophagus
26	chr8:121774800-121777200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:121774800-121777200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:121774800-121777400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:121774800-121781000	Weak transcription	Lung	lung
30	chr8:121774800-121781600	Weak transcription	Aorta	Aorta
31	chr8:121774800-121781600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:121774800-121781800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:121774800-121781800	Weak transcription	Pancreas	Pancrea
34	chr8:121774800-121786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:121774800-121787800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:121774800-121788600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:121775000-121776000	Weak transcription	Osteobl	bone
38	chr8:121775000-121776200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:121775000-121776800	Enhancers	NHDF-Ad	bronchial
40	chr8:121775000-121779400	Weak transcription	Primary T cells from cord blood	blood
41	chr8:121775000-121780200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:121775000-121780400	Weak transcription	HSMMtube	muscle
43	chr8:121775000-121784400	Weak transcription	Fetal Stomach	stomach
44	chr8:121775000-121785000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:121775000-121786200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:121775000-121786400	Weak transcription	Psoas Muscle	Psoas
47	chr8:121775000-121787600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:121775200-121780400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:121775200-121786600	Weak transcription	HSMM	muscle
50	chr8:121775200-121788800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links