Variant report

Variant	nsv555412
Chromosome Location	chr11:73307936-73308644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73307696..73311155-chr11:73356118..73358808,4	MCF-7	breast:
2	chr11:73289699..73292318-chr11:73308150..73310462,2	K562	blood:
3	chr11:73308527..73310864-chr11:73370877..73373752,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000021300	chromatin interactions
ENSG00000231726	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182585002	chr11:73307954-73307955	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34509251	chr11:73307955-73307956	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149583102	chr11:73307970-73307971	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534852367	chr11:73308021-73308022	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558039834	chr11:73308034-73308035	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542982759	chr11:73308037-73308038	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72973625	chr11:73308091-73308092	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543755531	chr11:73308117-73308118	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113200503	chr11:73308161-73308162	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556163207	chr11:73308172-73308173	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575933792	chr11:73308202-73308203	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541937482	chr11:73308221-73308222	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186211070	chr11:73308238-73308239	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527497776	chr11:73308269-73308270	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541190110	chr11:73308300-73308301	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542459164	chr11:73308312-73308313	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533313909	chr11:73308330-73308331	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549799262	chr11:73308381-73308382	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377214998	chr11:73308398-73308399	Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570058307	chr11:73308411-73308412	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529240862	chr11:73308428-73308429	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533336411	chr11:73308469-73308470	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190721957	chr11:73308508-73308509	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7118057	chr11:73308541-73308542	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534892122	chr11:73308551-73308552	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148721774	chr11:73308575-73308576	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544230776	chr11:73308577-73308578	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531532913	chr11:73308617-73308618	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
Hodgkin''s lymphoma	17606441	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
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	21203850	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73290000-73308000	Weak transcription	Primary B cells from cord blood	blood
2	chr11:73290400-73308000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:73306000-73308000	Enhancers	Primary T cells from cord blood	blood
4	chr11:73306000-73308200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:73306600-73308400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:73306800-73308000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:73306800-73308400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr11:73307000-73308000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr11:73307000-73308000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:73307000-73308000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:73307000-73308000	Enhancers	Colon Smooth Muscle	Colon
12	chr11:73307000-73308000	Enhancers	Fetal Thymus	thymus
13	chr11:73307000-73308000	Enhancers	Right Ventricle	heart
14	chr11:73307000-73308200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:73307000-73308200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:73307000-73308400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:73307000-73308400	Enhancers	Small Intestine	intestine
18	chr11:73307200-73308000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:73307200-73308000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:73307200-73308200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:73307200-73308600	Flanking Active TSS	Dnd41	blood
22	chr11:73307400-73308000	Enhancers	Liver	Liver
23	chr11:73307400-73308000	Enhancers	K562	blood
24	chr11:73307400-73308200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:73307400-73308200	Flanking Active TSS	Fetal Brain Female	brain
26	chr11:73307400-73308400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:73307400-73308400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr11:73307400-73308400	Flanking Active TSS	HepG2	liver
29	chr11:73307400-73310200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:73307600-73308000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:73307600-73308000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:73307600-73308000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:73307600-73308000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:73307600-73308000	Active TSS	Brain Angular Gyrus	brain
35	chr11:73307600-73308000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:73307600-73308000	Enhancers	Left Ventricle	heart
37	chr11:73307600-73308000	Enhancers	Lung	lung
38	chr11:73307600-73308000	Enhancers	Pancreas	Pancrea
39	chr11:73307600-73308000	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:73307600-73308000	Enhancers	Right Atrium	heart
41	chr11:73307600-73308000	Enhancers	HSMMtube	muscle
42	chr11:73307600-73308200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:73307600-73308200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:73307600-73308200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr11:73307600-73308200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:73307600-73308200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:73307600-73308200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:73307600-73308200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:73307600-73308200	Active TSS	Colonic Mucosa	Colon
50	chr11:73307600-73308200	Enhancers	Fetal Heart	heart

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