Variant report

Variant	nsv975332
Chromosome Location	chr11:85535584-85559775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:85374745..85377665-chr11:85553571..85555167,2	K562	blood:
2	chr11:85518980..85522247-chr11:85555372..85557782,5	MCF-7	breast:
3	chr11:85535692..85538329-chr11:85564444..85566884,2	MCF-7	breast:
4	chr11:85553949..85557231-chr11:85564538..85567553,4	MCF-7	breast:
5	chr11:85520346..85521861-chr11:85552981..85555359,2	MCF-7	breast:
6	chr11:85456897..85461654-chr11:85539528..85543738,6	MCF-7	breast:
7	chr11:85554468..85557167-chr11:85560907..85564178,3	MCF-7	breast:
8	chr11:85434008..85435703-chr11:85538641..85540808,2	MCF-7	breast:
9	chr11:85365300..85367946-chr11:85539252..85541272,2	MCF-7	breast:
10	chr11:85539001..85544573-chr11:85562593..85567590,7	MCF-7	breast:
11	chr11:85536056..85537864-chr11:85539070..85542724,4	K562	blood:
12	chr11:85521529..85522208-chr11:85536774..85537392,2	MCF-7	breast:
13	chr11:85545547..85548026-chr11:85554276..85555981,3	MCF-7	breast:
14	chr11:85371590..85374337-chr11:85533761..85535613,2	MCF-7	breast:
15	chr11:85546125..85548288-chr11:85553041..85556244,4	MCF-7	breast:
16	chr11:85535912..85542788-chr11:85553207..85557743,22	MCF-7	breast:
17	chr11:85552352..85554129-chr20:52225769..52227319,2	MCF-7	breast:
18	chr11:85430781..85433694-chr11:85551714..85553918,2	MCF-7	breast:
19	chr11:85521201..85523634-chr11:85558488..85561627,3	MCF-7	breast:
20	chr11:85449712..85452124-chr11:85536910..85538885,2	MCF-7	breast:
21	chr11:85539470..85540039-chr11:85555610..85556260,2	MCF-7	breast:
22	chr11:85546125..85548288-chr11:85553041..85556244,4	MCF-7	breast:
23	chr11:85535201..85544742-chr11:85551836..85558472,22	MCF-7	breast:
24	chr11:85369899..85372804-chr11:85545062..85546579,2	MCF-7	breast:
25	chr11:85495095..85500419-chr11:85536956..85541120,6	MCF-7	breast:
26	chr11:85437434..85439312-chr11:85537130..85538881,2	MCF-7	breast:
27	chr11:85306486..85307001-chr11:85536829..85537808,2	K562	blood:
28	chr11:85448431..85450003-chr11:85541669..85543570,2	MCF-7	breast:
29	chr11:85536056..85537864-chr11:85539070..85542724,4	K562	blood:
30	chr11:85518792..85520429-chr11:85538920..85541767,2	K562	blood:
31	chr11:85535201..85544742-chr11:85551836..85558472,22	MCF-7	breast:
32	chr11:85555649..85556297-chr11:85565623..85566226,2	MCF-7	breast:
33	chr11:85545547..85548026-chr11:85554276..85555981,3	MCF-7	breast:
34	chr11:85519432..85524089-chr11:85553392..85557771,8	MCF-7	breast:
35	chr11:85538884..85541590-chr11:85810993..85813631,2	MCF-7	breast:
36	chr11:85539212..85541786-chr11:85564871..85567550,4	MCF-7	breast:
37	chr11:85447110..85449601-chr11:85539919..85542813,2	MCF-7	breast:
38	chr11:85547607..85549279-chr11:85549472..85552275,2	MCF-7	breast:
39	chr11:85540645..85543308-chr6:26157677..26159899,2	MCF-7	breast:
40	chr11:85554738..85557275-chr11:85564156..85566058,2	K562	blood:
41	chr11:85547607..85549279-chr11:85549472..85552275,2	MCF-7	breast:
42	chr11:85542289..85542895-chr11:85555344..85556058,2	MCF-7	breast:
43	chr11:85542289..85542895-chr11:85555344..85556058,2	MCF-7	breast:
44	chr11:85457955..85460944-chr11:85541331..85543778,2	MCF-7	breast:
45	chr11:85371076..85377725-chr11:85533880..85541610,16	MCF-7	breast:
46	chr11:85519538..85523727-chr11:85547470..85550382,4	MCF-7	breast:
47	chr11:85520966..85522059-chr11:85536950..85537673,3	MCF-7	breast:
48	chr11:85528152..85530111-chr11:85537242..85539154,2	K562	blood:
49	chr11:85405093..85406585-chr11:85536858..85537561,5	MCF-7	breast:
50	chr11:85368566..85377997-chr11:85535712..85544822,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137504	chromatin interactions
ENSG00000150676	chromatin interactions
ENSG00000137501	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000171202	chromatin interactions
ENSG00000215504	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000172201	chromatin interactions
ENSG00000150687	chromatin interactions
ENSG00000171940	chromatin interactions

Extended variants
information (count: 933 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34653441	chr11:85535585-85535586	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182803531	chr11:85535586-85535587	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543917748	chr11:85535624-85535625	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186053675	chr11:85535681-85535682	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190975773	chr11:85535690-85535691	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145122165	chr11:85535781-85535782	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs182875709	chr11:85535786-85535787	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs61907275	chr11:85535788-85535789	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542382029	chr11:85535823-85535824	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148556608	chr11:85535824-85535825	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs572055617	chr11:85535830-85535831	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs542208960	chr11:85535888-85535889	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188626504	chr11:85535916-85535917	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs552684675	chr11:85536009-85536010	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs80206063	chr11:85536029-85536030	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs528483061	chr11:85536036-85536037	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs141962310	chr11:85536088-85536089	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs568296618	chr11:85536119-85536120	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs535309940	chr11:85536135-85536136	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs192578110	chr11:85536137-85536138	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs150692567	chr11:85536182-85536183	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs539174874	chr11:85536202-85536203	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs140027921	chr11:85536220-85536221	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs371297957	chr11:85536239-85536240	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs61907276	chr11:85536258-85536259	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs572515128	chr11:85536261-85536262	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs539797352	chr11:85536288-85536289	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs372987158	chr11:85536292-85536293	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs182798679	chr11:85536308-85536309	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs542369037	chr11:85536353-85536354	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377388926	chr11:85536379-85536380	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370322628	chr11:85536410-85536411	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs35394810	chr11:85536430-85536431	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs57822338	chr11:85536431-85536432	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200896645	chr11:85536444-85536445	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs397949358	chr11:85536447-85536448	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs560946997	chr11:85536468-85536469	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs553412655	chr11:85536486-85536487	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs576020448	chr11:85536502-85536503	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs542145229	chr11:85536503-85536504	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs563937015	chr11:85536518-85536519	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs374662063	chr11:85536519-85536520	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs531127081	chr11:85536580-85536581	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs77450926	chr11:85536636-85536637	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs564529108	chr11:85536675-85536676	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs545317710	chr11:85536702-85536703	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368143264	chr11:85536755-85536756	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs559007247	chr11:85536820-85536821	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs543483960	chr11:85536900-85536901	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs144576768	chr11:85536933-85536934	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85524800-85537200	Weak transcription	Small Intestine	intestine
2	chr11:85532400-85538800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr11:85532400-85540000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr11:85532600-85539200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr11:85532600-85539600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:85532800-85536200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:85532800-85539200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:85532800-85540000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:85533000-85537200	Weak transcription	Hela-S3	cervix
10	chr11:85533200-85536800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:85533200-85538400	Weak transcription	NH-A	brain
12	chr11:85533200-85539800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:85533400-85538400	Weak transcription	Pancreas	Pancrea
14	chr11:85534000-85537000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:85534000-85537200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:85534000-85537200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:85534000-85537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:85534200-85535600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:85534200-85536800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:85534200-85537400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:85534200-85537400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:85534200-85537400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:85534200-85537600	Weak transcription	Osteobl	bone
24	chr11:85534200-85538200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:85534400-85535600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:85534400-85536600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:85534400-85536800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:85534400-85537000	Weak transcription	HSMM	muscle
29	chr11:85534400-85537400	Weak transcription	HMEC	breast
30	chr11:85534600-85540000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:85534800-85536000	Enhancers	Fetal Thymus	thymus
32	chr11:85534800-85539200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr11:85535000-85536000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:85535000-85536200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:85535200-85535600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:85535200-85535800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:85535200-85540000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:85535400-85535600	Bivalent Enhancer	Dnd41	blood
39	chr11:85535400-85535800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:85535400-85536200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr11:85535400-85536400	Weak transcription	Stomach Mucosa	stomach
42	chr11:85535400-85536600	Weak transcription	Fetal Lung	lung
43	chr11:85535400-85536600	Weak transcription	A549	lung
44	chr11:85535400-85536600	Weak transcription	NHDF-Ad	bronchial
45	chr11:85535400-85536600	Weak transcription	NHLF	lung
46	chr11:85535400-85537000	Weak transcription	HSMMtube	muscle
47	chr11:85535400-85537600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:85535400-85537600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:85535400-85539400	Enhancers	Primary T cells from cord blood	blood
50	chr11:85535400-85539800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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