Variant report

Variant	nsv522492
Chromosome Location	chr11:72150828-72154529
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	chr11:72150961..72153899-chr11:72155415..72157907,2	MCF-7	breast:
2	chr11:72150565..72152924-chr11:72165968..72167789,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11827506	chr11:72150828-72150829	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190025958	chr11:72150906-72150907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562084316	chr11:72150937-72150938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144177334	chr11:72150938-72150939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193043420	chr11:72151000-72151001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565801016	chr11:72151050-72151051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112118151	chr11:72151063-72151064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185003171	chr11:72151077-72151078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376943594	chr11:72151082-72151083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570987872	chr11:72151099-72151100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569933123	chr11:72151142-72151143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189583014	chr11:72151161-72151162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555693730	chr11:72151172-72151173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567571914	chr11:72151201-72151202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144033609	chr11:72151210-72151211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116126988	chr11:72151260-72151261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577641413	chr11:72151305-72151306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185482792	chr11:72151329-72151330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371299441	chr11:72151357-72151358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557054355	chr11:72151378-72151379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148680896	chr11:72151393-72151394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562004197	chr11:72151416-72151417	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564647491	chr11:72151421-72151422	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369024205	chr11:72151435-72151436	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541197559	chr11:72151520-72151521	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559498319	chr11:72151521-72151522	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373331779	chr11:72151620-72151621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533607432	chr11:72151625-72151626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551573359	chr11:72151659-72151660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs570176677	chr11:72151667-72151668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530763703	chr11:72151709-72151710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549410338	chr11:72151723-72151724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567535605	chr11:72151726-72151727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs534940330	chr11:72151736-72151737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113355956	chr11:72151818-72151819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547072943	chr11:72151862-72151863	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189453627	chr11:72151879-72151880	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538868737	chr11:72151880-72151881	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556777870	chr11:72151897-72151898	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181279213	chr11:72151932-72151933	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186328165	chr11:72151934-72151935	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112751937	chr11:72151955-72151956	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111274969	chr11:72151960-72151961	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs146230314	chr11:72151964-72151965	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs113957570	chr11:72151980-72151981	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112350516	chr11:72152002-72152003	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150535762	chr11:72152020-72152021	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs578105406	chr11:72152030-72152031	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569443888	chr11:72152090-72152091	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371361545	chr11:72152129-72152130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72145600-72152000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:72145600-72152600	Weak transcription	Right Atrium	heart
3	chr11:72146000-72152000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:72146800-72151200	Weak transcription	Placenta	Placenta
5	chr11:72150200-72151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:72150200-72151200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:72150200-72151600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:72150200-72151600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:72150200-72151600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:72150200-72151600	Enhancers	HMEC	breast
11	chr11:72150200-72151600	Enhancers	NHEK	skin
12	chr11:72150200-72152200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:72150200-72153000	Enhancers	Adipose Nuclei	Adipose
14	chr11:72150400-72151400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr11:72150400-72151400	Enhancers	Osteobl	bone
16	chr11:72150400-72154800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:72150600-72151400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:72150600-72151600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:72150600-72152400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:72150800-72151000	Enhancers	Primary B cells from cord blood	blood
21	chr11:72150800-72151600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:72150800-72151600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:72150800-72158000	Weak transcription	Hela-S3	cervix
24	chr11:72151000-72151400	Weak transcription	Primary B cells from cord blood	blood
25	chr11:72151000-72151600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:72151200-72151600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:72151200-72152600	Enhancers	Placenta	Placenta
28	chr11:72151400-72151600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:72151400-72151600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:72151400-72151600	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:72151400-72153000	Enhancers	Primary B cells from cord blood	blood
32	chr11:72151400-72153200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:72151600-72152000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr11:72151600-72152400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:72151800-72153000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr11:72152000-72152800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:72152000-72152800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:72152000-72153000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:72152000-72153000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:72152000-72153000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:72152000-72153200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:72152000-72154400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:72152200-72152600	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:72152200-72152600	Enhancers	Primary T cells from cord blood	blood
45	chr11:72152200-72152600	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:72152200-72153200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:72152400-72152800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:72152400-72152800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:72152400-72153200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:72152600-72153200	Enhancers	Right Atrium	heart

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