Variant report

Variant	nsv527942
Chromosome Location	chr11:74043708-74044976
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	chr11:74041592..74044323-chr11:74054058..74056372,2	MCF-7	breast:
2	chr11:74043932..74046437-chr11:74097322..74099844,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs596976	chr11:74043708-74043709	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117931948	chr11:74043714-74043715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577983122	chr11:74043752-74043753	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543742118	chr11:74043772-74043773	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564036651	chr11:74043855-74043856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562011181	chr11:74043875-74043876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117409920	chr11:74043876-74043877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532481039	chr11:74043979-74043980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111826119	chr11:74043982-74043983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201607872	chr11:74043995-74043996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184479829	chr11:74044063-74044064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189134262	chr11:74044087-74044088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528986083	chr11:74044119-74044120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11236061	chr11:74044139-74044140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146322900	chr11:74044156-74044157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563913469	chr11:74044166-74044167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370177913	chr11:74044168-74044169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146814071	chr11:74044222-74044223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570473163	chr11:74044234-74044235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549805527	chr11:74044251-74044252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377542233	chr11:74044309-74044310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113087133	chr11:74044371-74044372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12294470	chr11:74044465-74044466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562363301	chr11:74044535-74044536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1053021	chr11:74044557-74044558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551220633	chr11:74044603-74044604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568812669	chr11:74044607-74044608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565561778	chr11:74044623-74044624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140468537	chr11:74044686-74044687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78911948	chr11:74044691-74044692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571423657	chr11:74044740-74044741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549167227	chr11:74044790-74044791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577935738	chr11:74044819-74044820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150405699	chr11:74044860-74044861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557360218	chr11:74044917-74044918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574340129	chr11:74044947-74044948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543343426	chr11:74044953-74044954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181165242	chr11:74044954-74044955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200287727	chr11:74044974-74044975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs518268	chr11:74044975-74044976	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs3193507	chr11:74044976-74044977	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:100)

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
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	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
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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74031200-74071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74033200-74047200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:74037000-74046800	Weak transcription	Fetal Thymus	thymus
4	chr11:74037000-74055400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:74037200-74046800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:74037200-74050000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:74037400-74051600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:74037400-74052200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:74037400-74078800	Weak transcription	Small Intestine	intestine
10	chr11:74037600-74051600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:74037600-74052800	Weak transcription	A549	lung
12	chr11:74037800-74046800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:74037800-74086200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:74038000-74044800	Weak transcription	Right Atrium	heart
15	chr11:74038000-74047000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:74038000-74047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:74038000-74047200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:74038000-74047400	Weak transcription	Brain Germinal Matrix	brain
19	chr11:74038000-74050400	Weak transcription	Gastric	stomach
20	chr11:74038000-74071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:74038000-74077400	Weak transcription	Psoas Muscle	Psoas
22	chr11:74038000-74077600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:74038000-74084400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:74038200-74047000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:74038200-74049000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:74038200-74050400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:74038200-74052800	Weak transcription	Ovary	ovary
28	chr11:74038200-74053600	Weak transcription	Spleen	Spleen
29	chr11:74038200-74058200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:74038200-74065000	Weak transcription	Aorta	Aorta
31	chr11:74038200-74071000	Weak transcription	Fetal Stomach	stomach
32	chr11:74038200-74071400	Weak transcription	Left Ventricle	heart
33	chr11:74038200-74071400	Weak transcription	Lung	lung
34	chr11:74038200-74082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:74038200-74084400	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:74038400-74044800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:74038400-74046800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:74038400-74051800	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:74038400-74052800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:74038400-74084400	Weak transcription	Liver	Liver
41	chr11:74038400-74086200	Weak transcription	Adipose Nuclei	Adipose
42	chr11:74038600-74051600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:74038600-74071400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:74038800-74048200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:74038800-74070600	Weak transcription	Fetal Brain Male	brain
46	chr11:74039000-74053000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:74039200-74055200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:74039400-74046800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:74039400-74071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:74039600-74047000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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