Variant report

Variant	esv2762767
Chromosome Location	chr8:121843465-121849583
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	chr8:121823512..121825104-chr8:121845143..121848001,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTBP-6	chr8:121847199-121847285	ucscGeneNc_uc003ypf_1

Variant related genes	Relation type
ENSG00000172164	chromatin interactions
ENSG00000272502	chromatin interactions

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	rs556725968	chr8:121843478-121843479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376842477	chr8:121843481-121843482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79004838	chr8:121843512-121843513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147175196	chr8:121843540-121843541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200644209	chr8:121843566-121843567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373684268	chr8:121843570-121843571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574733247	chr8:121843572-121843573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73325179	chr8:121843577-121843578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190518310	chr8:121843647-121843648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140274573	chr8:121843698-121843699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374202482	chr8:121843723-121843724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542169652	chr8:121843741-121843742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144252683	chr8:121843750-121843751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529509626	chr8:121843770-121843771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71514724	chr8:121843778-121843779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182784836	chr8:121843809-121843810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533361579	chr8:121843832-121843833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72682574	chr8:121843927-121843928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566928130	chr8:121843995-121843996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73325181	chr8:121844041-121844042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139723941	chr8:121844048-121844049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567579268	chr8:121844083-121844084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538176488	chr8:121844094-121844095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556162112	chr8:121844135-121844136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571464284	chr8:121844138-121844139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538415803	chr8:121844142-121844143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553835550	chr8:121844154-121844155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571780462	chr8:121844195-121844196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556274728	chr8:121844196-121844197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542230466	chr8:121844210-121844211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537438416	chr8:121844271-121844272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554181775	chr8:121844356-121844357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10113144	chr8:121844369-121844370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544938485	chr8:121844395-121844396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576339242	chr8:121844405-121844406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116008764	chr8:121844429-121844430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149958435	chr8:121844445-121844446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76271418	chr8:121844468-121844469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187820549	chr8:121844473-121844474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560588259	chr8:121844475-121844476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144987274	chr8:121844477-121844478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116170274	chr8:121844515-121844516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192638850	chr8:121844551-121844552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567691591	chr8:121844564-121844565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149090667	chr8:121844580-121844581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76745141	chr8:121844583-121844584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550088806	chr8:121844590-121844591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571406011	chr8:121844617-121844618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538849630	chr8:121844694-121844695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547242066	chr8:121844710-121844711	Weak 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
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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121837600-121843800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:121838400-121869800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:121840600-121846000	Enhancers	HepG2	liver
4	chr8:121842200-121848200	Weak transcription	Psoas Muscle	Psoas
5	chr8:121843600-121844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:121843800-121844400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:121844400-121846000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:121844800-121846200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:121846000-121846400	Enhancers	Esophagus	oesophagus
10	chr8:121846000-121847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:121846000-121847600	Weak transcription	HepG2	liver
12	chr8:121846200-121848400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:121846800-121847600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:121846800-121849400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:121846800-121850200	Enhancers	Primary T cells from cord blood	blood
16	chr8:121846800-121850800	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:121847000-121847600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr8:121847200-121847400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:121847200-121847600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:121847200-121847600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:121847200-121849400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:121847200-121850000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:121847400-121848800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:121847600-121848000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:121847600-121848000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:121847600-121848600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:121847600-121848800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:121847600-121851200	Enhancers	HepG2	liver
29	chr8:121848000-121849400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:121848000-121849600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:121848000-121849800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:121848200-121848600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:121848200-121848600	Enhancers	Psoas Muscle	Psoas
34	chr8:121848200-121848800	Enhancers	Liver	Liver
35	chr8:121848200-121849400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:121848200-121849400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:121848400-121848800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:121848400-121849200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:121848400-121849600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:121848400-121852400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:121848600-121848800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:121848600-121849200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:121848600-121849200	Enhancers	Fetal Thymus	thymus
44	chr8:121848600-121850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:121848800-121849000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:121848800-121849200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:121848800-121849200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:121848800-121849400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr8:121848800-121850000	Weak transcription	Liver	Liver
50	chr8:121849000-121849200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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