Variant report

Variant	nsv983040
Chromosome Location	chr11:72049072-72051192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72032928..72035101-chr11:72048311..72049963,2	K562	blood:
2	chr11:72047802..72049631-chr11:72136016..72138131,2	MCF-7	breast:
3	chr11:72049854..72052109-chr11:72063965..72066307,2	MCF-7	breast:
4	chr11:72043541..72046413-chr11:72048460..72050772,2	MCF-7	breast:
5	chr11:72047915..72051506-chr11:72051775..72054985,4	K562	blood:
6	chr11:72048175..72050964-chr11:72057848..72059463,2	K562	blood:

Variant related genes	Relation type
ENSG00000255672	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190504069	chr11:72049116-72049117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182737607	chr11:72049140-72049141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73530724	chr11:72049158-72049159	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568074634	chr11:72049165-72049166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143794850	chr11:72049212-72049213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548575487	chr11:72049218-72049219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567186393	chr11:72049226-72049227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534096570	chr11:72049259-72049260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559127004	chr11:72049272-72049273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576878066	chr11:72049276-72049277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76352047	chr11:72049303-72049304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371560065	chr11:72049335-72049336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574490488	chr11:72049355-72049356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542236850	chr11:72049388-72049389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534718934	chr11:72049428-72049429	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114486042	chr11:72049443-72049444	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545653454	chr11:72049449-72049450	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187848894	chr11:72049473-72049474	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375735298	chr11:72049496-72049497	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531396659	chr11:72049546-72049547	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77331289	chr11:72049556-72049557	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561792616	chr11:72049574-72049575	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528876297	chr11:72049715-72049716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565746297	chr11:72049795-72049796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547383510	chr11:72049809-72049810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146824975	chr11:72049907-72049908	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148950245	chr11:72049944-72049945	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529725524	chr11:72049969-72049970	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530514056	chr11:72050121-72050122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368368763	chr11:72050122-72050123	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142809572	chr11:72050227-72050228	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553144918	chr11:72050270-72050271	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538097220	chr11:72050305-72050306	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547851423	chr11:72050325-72050326	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556217827	chr11:72050336-72050337	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs151028571	chr11:72050405-72050406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535449182	chr11:72050427-72050428	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554161943	chr11:72050452-72050453	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140399295	chr11:72050493-72050494	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192422792	chr11:72050559-72050560	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147021307	chr11:72050585-72050586	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576280177	chr11:72050597-72050598	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543674181	chr11:72050613-72050614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138203280	chr11:72050749-72050750	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183813884	chr11:72050770-72050771	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540622509	chr11:72050794-72050795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564862875	chr11:72050798-72050799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142200671	chr11:72050839-72050840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115913275	chr11:72050843-72050844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145926209	chr11:72050844-72050845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
Obesity	19966786	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	19153074	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72012800-72070600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:72025600-72054000	Weak transcription	GM12878-XiMat	blood
3	chr11:72026600-72067400	Weak transcription	Fetal Intestine Large	intestine
4	chr11:72027600-72060600	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:72028400-72060800	Weak transcription	Gastric	stomach
6	chr11:72030600-72060200	Weak transcription	Adipose Nuclei	Adipose
7	chr11:72032800-72054600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:72033000-72075600	Weak transcription	A549	lung
9	chr11:72033200-72063800	Weak transcription	Aorta	Aorta
10	chr11:72038200-72071200	Weak transcription	HMEC	breast
11	chr11:72038400-72049800	Weak transcription	NHDF-Ad	bronchial
12	chr11:72038400-72053600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:72038400-72076600	Weak transcription	Liver	Liver
14	chr11:72038800-72060600	Weak transcription	Esophagus	oesophagus
15	chr11:72039400-72060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:72039600-72049400	Weak transcription	HSMMtube	muscle
17	chr11:72039800-72077400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:72040000-72060200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:72040000-72070800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:72040400-72049600	Weak transcription	Spleen	Spleen
21	chr11:72040400-72053800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:72040400-72060600	Weak transcription	Ovary	ovary
23	chr11:72040400-72069400	Weak transcription	Fetal Brain Female	brain
24	chr11:72040800-72070800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:72041000-72060200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:72041200-72054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:72041400-72049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:72041400-72064600	Weak transcription	Hela-S3	cervix
29	chr11:72041600-72050200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:72041600-72060600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:72041800-72049200	Weak transcription	Left Ventricle	heart
32	chr11:72041800-72049600	Weak transcription	Dnd41	blood
33	chr11:72041800-72060600	Weak transcription	Psoas Muscle	Psoas
34	chr11:72041800-72063600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:72041800-72067400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:72041800-72072200	Weak transcription	HUVEC	blood vessel
37	chr11:72041800-72076000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:72042000-72059800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:72043200-72076600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:72044800-72053400	Weak transcription	HepG2	liver
41	chr11:72044800-72063600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:72045000-72060800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:72045200-72049400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:72045200-72049800	Weak transcription	Osteobl	bone
45	chr11:72045200-72060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:72045400-72049600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:72045600-72060600	Weak transcription	Thymus	Thymus
48	chr11:72045600-72061000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:72045600-72065200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:72045800-72054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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