Variant report

Variant	esv3423674
Chromosome Location	chr11:64149128-64149573
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	chr11:64136184..64137817-chr11:64148842..64150477,2	K562	blood:
2	chr11:64144008..64147630-chr11:64148527..64151012,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 98 )

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	rs565977713	chr11:64149152-64149153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs590103	chr11:64149187-64149188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138276595	chr11:64149212-64149213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11231778	chr11:64149215-64149216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575860632	chr11:64149218-64149219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202180579	chr11:64149220-64149221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199674080	chr11:64149225-64149226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111834008	chr11:64149226-64149227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537514053	chr11:64149228-64149229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs471584	chr11:64149252-64149253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576266517	chr11:64149275-64149276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545191652	chr11:64149319-64149320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558677640	chr11:64149350-64149351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572710681	chr11:64149380-64149381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541329966	chr11:64149389-64149390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370743505	chr11:64149398-64149399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560963604	chr11:64149401-64149402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529638207	chr11:64149418-64149419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543538906	chr11:64149451-64149452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563364003	chr11:64149461-64149462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186960985	chr11:64149466-64149467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201152002	chr11:64149470-64149471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189052090	chr11:64149549-64149550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528407278	chr11:64149550-64149551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543249398	chr11:64149551-64149552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	20877625	CNVD
Autism	22209245	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64134400-64150200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:64134400-64158400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:64138200-64151600	Weak transcription	Left Ventricle	heart
4	chr11:64140000-64152800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:64141200-64162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:64146400-64151600	Weak transcription	Right Atrium	heart
7	chr11:64146400-64151600	Weak transcription	Right Ventricle	heart
8	chr11:64146600-64151200	Weak transcription	Pancreas	Pancrea
9	chr11:64147200-64152400	Weak transcription	Fetal Thymus	thymus
10	chr11:64147400-64150600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:64147600-64150000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:64147600-64152000	Weak transcription	Gastric	stomach
13	chr11:64147800-64151600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:64147800-64152800	Weak transcription	Spleen	Spleen
15	chr11:64147800-64162200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:64148000-64149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:64148200-64150200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:64148200-64151800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:64148400-64149400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:64148400-64149600	Weak transcription	Fetal Heart	heart
21	chr11:64148400-64150000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:64148800-64150000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:64149000-64151000	Weak transcription	Placenta	Placenta
24	chr11:64149400-64153800	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links