Variant report

Variant	nsv612126
Chromosome Location	chr8:121873270-121874122
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	chr8:121864308..121866677-chr8:121872620..121875288,2	MCF-7	breast:
2	chr8:121861612..121864034-chr8:121872422..121874822,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139713677	chr8:121873335-121873336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6996149	chr8:121873345-121873346	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563273074	chr8:121873422-121873423	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs114388535	chr8:121873453-121873454	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs544086920	chr8:121873470-121873471	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs111877233	chr8:121873475-121873476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs10109303	chr8:121873486-121873487	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183786222	chr8:121873508-121873509	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs73327045	chr8:121873553-121873554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368672803	chr8:121873604-121873605	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs144034524	chr8:121873658-121873659	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs548336894	chr8:121873693-121873694	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs566263027	chr8:121873708-121873709	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570021380	chr8:121873725-121873726	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs146463096	chr8:121873729-121873730	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs558597744	chr8:121873731-121873732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs73327046	chr8:121873759-121873760	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570680184	chr8:121873778-121873779	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs149032802	chr8:121873785-121873786	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs142083945	chr8:121873796-121873797	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs527600563	chr8:121873803-121873804	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs7000987	chr8:121873848-121873849	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs151146273	chr8:121873857-121873858	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs115499868	chr8:121873877-121873878	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs575138839	chr8:121873908-121873909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556322713	chr8:121873950-121873951	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs543763893	chr8:121874041-121874042	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558799472	chr8:121874051-121874052	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs140356118	chr8:121874065-121874066	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541253282	chr8:121874090-121874091	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs559514752	chr8:121874118-121874119	Enhancers Flanking Active TSS	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
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121868800-121874600	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:121868800-121877200	Enhancers	HepG2	liver
3	chr8:121869000-121874600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:121869000-121874800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:121870000-121873400	Weak transcription	Colonic Mucosa	Colon
6	chr8:121870000-121873400	Weak transcription	Right Ventricle	heart
7	chr8:121870200-121873400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:121870200-121873400	Weak transcription	Pancreas	Pancrea
9	chr8:121870200-121873600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:121870200-121873800	Weak transcription	Gastric	stomach
11	chr8:121870200-121874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:121870200-121875000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:121870400-121873400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:121870400-121873400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:121870400-121873400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:121870400-121873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:121870400-121873400	Weak transcription	Adipose Nuclei	Adipose
18	chr8:121870400-121873400	Weak transcription	Liver	Liver
19	chr8:121870400-121873400	Weak transcription	Left Ventricle	heart
20	chr8:121870400-121873400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:121870400-121873400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:121870400-121873400	Weak transcription	Thymus	Thymus
23	chr8:121870400-121873400	Weak transcription	Dnd41	blood
24	chr8:121870400-121873400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:121870400-121873600	Weak transcription	Primary B cells from cord blood	blood
26	chr8:121870400-121873600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:121870400-121873600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:121870400-121873800	Weak transcription	Psoas Muscle	Psoas
29	chr8:121870400-121875000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:121871000-121873400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:121871000-121873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:121871000-121873400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:121871000-121873400	Weak transcription	HSMM	muscle
34	chr8:121871000-121874000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:121871200-121873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:121871200-121873400	Weak transcription	HSMMtube	muscle
37	chr8:121872000-121874000	Weak transcription	Primary T cells from cord blood	blood
38	chr8:121872200-121875200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr8:121872400-121875000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:121872600-121873400	Weak transcription	NHLF	lung
41	chr8:121872600-121874800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:121872800-121874400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:121872800-121874400	Enhancers	NHDF-Ad	bronchial
44	chr8:121872800-121874800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:121872800-121874800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:121873000-121874200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:121873200-121874200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:121873200-121874200	Enhancers	HMEC	breast
49	chr8:121873200-121874200	Enhancers	HUVEC	blood vessel
50	chr8:121873200-121874400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links