Variant report

Variant	nsv820080
Chromosome Location	chr11:94211879-94212802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94202180..94204828-chr11:94212256..94213888,2	K562	blood:
2	chr11:94210098..94212202-chr11:94216700..94218600,2	K562	blood:
3	chr11:94208946..94211928-chr11:94232056..94233967,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564688936	chr11:94211896-94211897	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374635285	chr11:94211911-94211912	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376621889	chr11:94211914-94211915	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142996063	chr11:94211916-94211917	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150656288	chr11:94211960-94211961	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140130291	chr11:94211969-94211970	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200339150	chr11:94211973-94211974	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147771140	chr11:94211976-94211977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544069822	chr11:94212005-94212006	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370709772	chr11:94212013-94212014	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3218740	chr11:94212019-94212020	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199540078	chr11:94212022-94212023	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535801	chr11:94212048-94212049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192163648	chr11:94212070-94212071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534763267	chr11:94212105-94212106	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138828655	chr11:94212134-94212135	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547924756	chr11:94212141-94212142	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13447612	chr11:94212149-94212150	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs680695	chr11:94212154-94212155	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs370788876	chr11:94212173-94212174	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537521991	chr11:94212186-94212187	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77142496	chr11:94212188-94212189	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149230390	chr11:94212238-94212239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12281066	chr11:94212254-94212255	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568813709	chr11:94212255-94212256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535829590	chr11:94212282-94212283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13447611	chr11:94212336-94212337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553838519	chr11:94212415-94212416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10501815	chr11:94212446-94212447	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs114003315	chr11:94212447-94212448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7926138	chr11:94212498-94212499	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370240821	chr11:94212595-94212596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576614568	chr11:94212600-94212601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13447610	chr11:94212631-94212632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184005442	chr11:94212669-94212670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114468375	chr11:94212695-94212696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187319869	chr11:94212705-94212706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539843347	chr11:94212722-94212723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542117419	chr11:94212769-94212770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
4	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
7	chr11:94166600-94216400	Weak transcription	Gastric	stomach
8	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
9	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
12	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:94180800-94212600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:94180800-94215800	Weak transcription	Lung	lung
16	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
17	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:94183200-94222200	Weak transcription	HMEC	breast
19	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:94183600-94225800	Weak transcription	NHLF	lung
21	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
22	chr11:94193800-94214400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:94194000-94217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:94194400-94213800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:94194600-94216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:94194600-94221200	Weak transcription	Right Ventricle	heart
27	chr11:94194600-94225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:94194600-94225000	Weak transcription	Fetal Brain Male	brain
29	chr11:94195200-94215800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:94197200-94222600	Strong transcription	Dnd41	blood
31	chr11:94197400-94224600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:94197600-94225600	Weak transcription	Fetal Heart	heart
33	chr11:94197800-94216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:94198400-94224400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:94198800-94223800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:94199600-94213400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:94199800-94222400	Weak transcription	NHEK	skin
38	chr11:94200200-94213800	Weak transcription	Spleen	Spleen
39	chr11:94200400-94213600	Weak transcription	Brain Germinal Matrix	brain
40	chr11:94200600-94213600	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:94203000-94225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:94203200-94216000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:94203400-94215600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:94203600-94212400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:94204200-94215200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:94204600-94213600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:94205000-94224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:94205800-94224000	Strong transcription	Liver	Liver
49	chr11:94206400-94217600	Weak transcription	NH-A	brain
50	chr11:94206600-94216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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