Variant report

Variant	nsv612115
Chromosome Location	chr8:121868551-121873486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121864308..121866677-chr8:121872620..121875288,2	MCF-7	breast:
2	chr8:121865313..121867738-chr8:121870281..121872439,2	MCF-7	breast:
3	chr8:121859072..121861169-chr8:121866791..121869126,2	MCF-7	breast:
4	chr8:121865791..121868375-chr8:121870953..121873135,2	K562	blood:
5	chr8:121861612..121864034-chr8:121872422..121874822,2	MCF-7	breast:
6	chr8:121854976..121857000-chr8:121869044..121870751,2	MCF-7	breast:

Extended variants
information (count: 234 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4871137	chr8:121868551-121868552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200518806	chr8:121868585-121868586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541656153	chr8:121868593-121868594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557109835	chr8:121868682-121868683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185969234	chr8:121868698-121868699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539499788	chr8:121868733-121868734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557507269	chr8:121868768-121868769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572757642	chr8:121868794-121868795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554853336	chr8:121868840-121868841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553219501	chr8:121868842-121868843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533476951	chr8:121868843-121868844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73327019	chr8:121868869-121868870	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537574032	chr8:121868890-121868891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542051152	chr8:121868896-121868897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563881998	chr8:121868942-121868943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530956886	chr8:121868951-121868952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190478842	chr8:121868967-121868968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573686570	chr8:121868981-121868982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550776648	chr8:121869003-121869004	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73327020	chr8:121869046-121869047	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377351926	chr8:121869049-121869050	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546938122	chr8:121869056-121869057	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139885595	chr8:121869079-121869080	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566775714	chr8:121869091-121869092	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529188700	chr8:121869116-121869117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550825017	chr8:121869207-121869208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7003180	chr8:121869222-121869223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375557625	chr8:121869241-121869242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs557784627	chr8:121869245-121869246	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566364150	chr8:121869247-121869248	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs533510557	chr8:121869248-121869249	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529990402	chr8:121869255-121869256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554926237	chr8:121869270-121869271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73707197	chr8:121869336-121869337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542112765	chr8:121869337-121869338	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557313543	chr8:121869358-121869359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs183929709	chr8:121869359-121869360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545984743	chr8:121869360-121869361	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564576723	chr8:121869361-121869362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528514781	chr8:121869364-121869365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73327022	chr8:121869368-121869369	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188876475	chr8:121869384-121869385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562043499	chr8:121869390-121869391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs73707198	chr8:121869403-121869404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115880636	chr8:121869425-121869426	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568958610	chr8:121869534-121869535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs552439018	chr8:121869566-121869567	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533118302	chr8:121869666-121869667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs142425242	chr8:121869706-121869707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570590622	chr8:121869731-121869732	Enhancers Weak transcription 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:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121838400-121869800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:121864400-121869400	Weak transcription	Fetal Kidney	kidney
3	chr8:121864600-121869400	Weak transcription	Liver	Liver
4	chr8:121864600-121870000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:121865400-121869400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:121866800-121868800	Weak transcription	HepG2	liver
7	chr8:121868000-121869200	Enhancers	NHDF-Ad	bronchial
8	chr8:121868200-121869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:121868200-121869400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:121868200-121869600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:121868200-121872600	Enhancers	NHLF	lung
12	chr8:121868400-121871400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:121868600-121869000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:121868600-121869200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:121868600-121869400	Enhancers	Osteobl	bone
16	chr8:121868800-121871000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:121868800-121874600	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:121868800-121877200	Enhancers	HepG2	liver
19	chr8:121869000-121869200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr8:121869000-121869200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:121869000-121869400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr8:121869000-121869600	Enhancers	Primary T cells from cord blood	blood
23	chr8:121869000-121869600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:121869000-121869600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:121869000-121869600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:121869000-121869600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:121869000-121869600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:121869000-121869600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:121869000-121869800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:121869000-121870200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:121869000-121870400	Enhancers	Dnd41	blood
32	chr8:121869000-121870600	Enhancers	HSMMtube	muscle
33	chr8:121869000-121871600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr8:121869000-121874600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:121869000-121874800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:121869200-121869600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr8:121869200-121869800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:121869200-121869800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:121869200-121869800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:121869200-121869800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr8:121869200-121870200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr8:121869200-121870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:121869200-121870400	Enhancers	Primary B cells from cord blood	blood
44	chr8:121869200-121870400	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:121869200-121870400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:121869200-121870400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:121869200-121870400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:121869200-121870400	Enhancers	Fetal Thymus	thymus
49	chr8:121869200-121870400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr8:121869200-121870400	Enhancers	HMEC	breast

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