Variant report

Variant	nsv528829
Chromosome Location	chr11:85495269-85496292
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	chr11:85495095..85500419-chr11:85536956..85541120,6	MCF-7	breast:
2	chr11:85494490..85496333-chr11:85515737..85519342,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs485485	chr11:85495269-85495270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139328164	chr11:85495278-85495279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542445075	chr11:85495304-85495305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376013273	chr11:85495352-85495353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554387724	chr11:85495356-85495357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543066797	chr11:85495394-85495395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543040078	chr11:85495413-85495414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564735856	chr11:85495418-85495419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532173124	chr11:85495423-85495424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74604855	chr11:85495424-85495425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61907261	chr11:85495426-85495427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547076069	chr11:85495466-85495467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560869513	chr11:85495485-85495486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527975232	chr11:85495492-85495493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574325159	chr11:85495504-85495505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549615037	chr11:85495560-85495561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367678485	chr11:85495658-85495659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183130651	chr11:85495699-85495700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531847915	chr11:85495754-85495755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550209678	chr11:85495773-85495774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571642111	chr11:85495774-85495775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539050610	chr11:85495829-85495830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78008277	chr11:85495838-85495839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75184703	chr11:85495845-85495846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77451360	chr11:85495846-85495847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114632115	chr11:85495857-85495858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372752941	chr11:85495912-85495913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536111780	chr11:85495951-85495952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568267921	chr11:85495955-85495956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186035491	chr11:85495956-85495957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543241693	chr11:85495985-85495986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376084745	chr11:85495994-85495995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17148484	chr11:85496016-85496017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529165310	chr11:85496029-85496030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113018295	chr11:85496030-85496031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541056119	chr11:85496118-85496119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559052788	chr11:85496124-85496125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528014120	chr11:85496149-85496150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550874499	chr11:85496179-85496180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561494862	chr11:85496180-85496181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190957799	chr11:85496203-85496204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11234408	chr11:85496242-85496243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146487450	chr11:85496247-85496248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532464298	chr11:85496271-85496272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1151152	chr11:85496292-85496293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Cancer	17440070	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85486400-85496200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:85491000-85499600	Enhancers	Stomach Mucosa	stomach
3	chr11:85491600-85499000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:85491800-85517800	Weak transcription	NHLF	lung
5	chr11:85492000-85496000	Weak transcription	A549	lung
6	chr11:85492000-85498000	Weak transcription	Colonic Mucosa	Colon
7	chr11:85492200-85502800	Weak transcription	Small Intestine	intestine
8	chr11:85492800-85498400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:85493000-85497800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:85493000-85498400	Weak transcription	Primary T cells from cord blood	blood
11	chr11:85493000-85498800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:85493000-85499000	Weak transcription	NHDF-Ad	bronchial
13	chr11:85493000-85499400	Weak transcription	HMEC	breast
14	chr11:85493200-85496000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:85493400-85496000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:85493400-85496200	Weak transcription	Lung	lung
17	chr11:85493400-85498800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:85493400-85499200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:85493400-85501200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:85493400-85502400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:85494000-85497600	Weak transcription	Fetal Intestine Small	intestine
22	chr11:85494000-85498600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:85494000-85502400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:85494600-85496400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:85494800-85495400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:85495200-85495400	Weak transcription	Gastric	stomach
27	chr11:85495200-85496000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:85495200-85497200	Weak transcription	Fetal Intestine Large	intestine
29	chr11:85496000-85496200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:85496000-85496200	Enhancers	A549	lung
31	chr11:85496000-85496400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr11:85496000-85496400	Enhancers	NHEK	skin
33	chr11:85496000-85498200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:85496200-85496400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:85496200-85496600	Weak transcription	A549	lung
36	chr11:85496200-85498600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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