Variant report

Variant	esv3453651
Chromosome Location	chr1:10625531-10626454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10619980..10621938-chr1:10626339..10628376,2	MCF-7	breast:
2	chr1:10625304..10627854-chr1:10628405..10630255,2	K562	blood:
3	chr1:10624346..10626941-chr1:10645390..10647712,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575383427	chr1:10625545-10625546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370535338	chr1:10625587-10625588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148714390	chr1:10625607-10625608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12738718	chr1:10625654-10625655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs144662793	chr1:10625673-10625674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562825887	chr1:10625678-10625679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182642977	chr1:10625689-10625690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186913916	chr1:10625717-10625718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566157128	chr1:10625742-10625743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527379547	chr1:10625762-10625763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548706181	chr1:10625826-10625827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71583880	chr1:10625879-10625880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147943676	chr1:10626029-10626030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12028920	chr1:10626038-10626039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557342015	chr1:10626043-10626044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182251945	chr1:10626074-10626075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539773024	chr1:10626209-10626210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11121593	chr1:10626287-10626288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541065294	chr1:10626303-10626304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573316325	chr1:10626326-10626327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140210347	chr1:10626328-10626329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145528256	chr1:10626336-10626337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573730077	chr1:10626345-10626346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543735199	chr1:10626354-10626355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187456701	chr1:10626411-10626412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
3	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
6	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:10606000-10638000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:10607600-10636800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:10607600-10636800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:10607600-10641400	Weak transcription	Lung	lung
11	chr1:10616400-10633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:10616400-10638200	Weak transcription	Esophagus	oesophagus
13	chr1:10616600-10626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:10616800-10627200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:10617000-10627000	Weak transcription	HSMMtube	muscle
16	chr1:10622400-10626000	Weak transcription	Osteobl	bone
17	chr1:10622800-10634800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:10623600-10645600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:10624600-10636800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:10624800-10628600	Weak transcription	Fetal Intestine Small	intestine
21	chr1:10624800-10629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:10624800-10629400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:10624800-10629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:10624800-10629600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:10624800-10634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:10624800-10646000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:10625400-10626200	Enhancers	HepG2	liver
28	chr1:10625400-10626400	Enhancers	Liver	Liver
29	chr1:10625800-10626000	Enhancers	Psoas Muscle	Psoas
30	chr1:10626000-10626200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:10626000-10637800	Weak transcription	Psoas Muscle	Psoas
32	chr1:10626400-10637800	Weak transcription	Liver	Liver

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