Variant report

Variant	nsv825946
Chromosome Location	chr11:64501725-64502190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573429308	chr11:64501728-64501729	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181366909	chr11:64501731-64501732	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556165039	chr11:64501732-64501733	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575956471	chr11:64501733-64501734	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555708768	chr11:64501788-64501789	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185943064	chr11:64501821-64501822	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565197551	chr11:64501835-64501836	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553718381	chr11:64501861-64501862	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572235169	chr11:64501877-64501878	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373056170	chr11:64501883-64501884	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191030075	chr11:64501905-64501906	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112706356	chr11:64501913-64501914	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111717342	chr11:64501914-64501915	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572132293	chr11:64501922-64501923	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552642288	chr11:64501929-64501930	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568734959	chr11:64501948-64501949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2284301	chr11:64501991-64501992	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs562856803	chr11:64502057-64502058	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376569818	chr11:64502095-64502096	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553737037	chr11:64502099-64502100	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531630297	chr11:64502148-64502149	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551624746	chr11:64502166-64502167	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571642964	chr11:64502180-64502181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64491000-64502200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:64491200-64502200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:64491200-64502400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:64491200-64502800	Weak transcription	Gastric	stomach
5	chr11:64491400-64502200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:64491400-64503000	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:64491400-64509400	Weak transcription	Right Atrium	heart
8	chr11:64491400-64509600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:64491400-64509600	Weak transcription	Pancreas	Pancrea
10	chr11:64491600-64502600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:64491600-64503200	Weak transcription	Esophagus	oesophagus
12	chr11:64491600-64509200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:64491600-64509400	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:64491800-64509400	Weak transcription	Brain Substantia Nigra	brain
15	chr11:64491800-64509800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:64492000-64509600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:64493400-64502200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:64493400-64508800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:64493600-64502600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:64493600-64503800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:64493600-64507800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:64493600-64508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:64493800-64503600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:64494000-64508400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:64494000-64508600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:64494000-64508600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:64494000-64508600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:64494200-64503400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:64494800-64503200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:64495800-64505200	Strong transcription	Fetal Thymus	thymus
31	chr11:64496600-64502200	Weak transcription	Lung	lung
32	chr11:64496600-64502400	Weak transcription	Aorta	Aorta
33	chr11:64497800-64504000	Weak transcription	Placenta	Placenta
34	chr11:64498000-64502200	Weak transcription	Liver	Liver
35	chr11:64498000-64502400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:64498000-64502400	Weak transcription	Right Ventricle	heart
37	chr11:64498000-64503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:64498000-64503800	Strong transcription	Spleen	Spleen
39	chr11:64498000-64508400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:64498200-64502200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:64498200-64502600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:64498200-64503200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:64498200-64509000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:64498400-64506800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:64498400-64506800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:64499400-64506800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:64499600-64502000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:64499600-64502200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:64499600-64502200	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:64499600-64502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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