Variant report

Variant	nsv555619
Chromosome Location	chr11:84521977-84553807
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
2	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
3	chr11:84521250..84522082-chr9:80503046..80503774,2	MCF-7	breast:
4	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
5	chr11:84528411..84530417-chr11:84577098..84579531,2	MCF-7	breast:
6	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
7	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
8	chr11:84525910..84528533-chr11:84530847..84533253,2	MCF-7	breast:
9	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
10	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
11	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
12	chr11:84525910..84528533-chr11:84530847..84533253,2	MCF-7	breast:
13	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:

No data

Extended variants
information (count: 945 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:945 , 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	rs11234189	chr11:84521977-84521978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551397488	chr11:84521995-84521996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141136970	chr11:84522001-84522002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550669573	chr11:84522016-84522017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568702560	chr11:84522097-84522098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569709910	chr11:84522116-84522117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551367795	chr11:84522121-84522122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553250004	chr11:84522167-84522168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537000726	chr11:84522173-84522174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555839604	chr11:84522175-84522176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530419698	chr11:84522206-84522207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150161352	chr11:84522255-84522256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542100005	chr11:84522366-84522367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563916757	chr11:84522409-84522410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188901279	chr11:84522424-84522425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115664861	chr11:84522426-84522427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530961317	chr11:84522468-84522469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181761012	chr11:84522507-84522508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138609023	chr11:84522546-84522547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377276376	chr11:84522709-84522710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543564455	chr11:84522737-84522738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148874970	chr11:84522741-84522742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540573677	chr11:84522785-84522786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143315333	chr11:84522801-84522802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529290952	chr11:84522808-84522809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550659069	chr11:84522860-84522861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562672445	chr11:84522900-84522901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200559814	chr11:84522902-84522903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532968868	chr11:84522942-84522943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139146200	chr11:84522951-84522952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566573961	chr11:84522975-84522976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574016738	chr11:84522986-84522987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545158975	chr11:84523022-84523023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549336041	chr11:84523073-84523074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184147583	chr11:84523079-84523080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537865944	chr11:84523087-84523088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188818188	chr11:84523124-84523125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180793000	chr11:84523125-84523126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143069299	chr11:84523142-84523143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558284175	chr11:84523178-84523179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17147591	chr11:84523313-84523314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369417687	chr11:84523326-84523327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562092274	chr11:84523340-84523341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373349187	chr11:84523342-84523343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36004097	chr11:84523357-84523358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138264169	chr11:84523360-84523361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76660302	chr11:84523367-84523368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551591603	chr11:84523382-84523383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142022235	chr11:84523466-84523467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527538468	chr11:84523468-84523469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84521200-84522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr11:84521600-84522600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:84521800-84526200	Enhancers	Fetal Brain Male	brain
4	chr11:84522000-84525000	Enhancers	Fetal Brain Female	brain
5	chr11:84522200-84522600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:84522200-84522600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:84522600-84523800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:84523400-84523800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:84523400-84523800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:84523400-84524000	Enhancers	Fetal Heart	heart
11	chr11:84523400-84524000	Enhancers	Fetal Stomach	stomach
12	chr11:84523600-84524000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:84523600-84524000	Enhancers	Fetal Lung	lung
14	chr11:84523800-84524000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr11:84523800-84524400	Enhancers	Fetal Muscle Leg	muscle
16	chr11:84523800-84526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:84525000-84528200	Weak transcription	Fetal Brain Female	brain
18	chr11:84525600-84525800	Enhancers	Fetal Stomach	stomach
19	chr11:84526800-84527200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:84527200-84529200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:84528200-84528800	Enhancers	Fetal Brain Female	brain
22	chr11:84528200-84530400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:84528400-84530600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:84528400-84530800	Enhancers	NHEK	skin
25	chr11:84528600-84529000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:84528600-84529600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:84528600-84530600	Enhancers	HMEC	breast
28	chr11:84528800-84529600	Enhancers	NHDF-Ad	bronchial
29	chr11:84529000-84529400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:84529200-84531400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:84529400-84530800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:84529600-84530000	Weak transcription	NHDF-Ad	bronchial
33	chr11:84529600-84530200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:84529600-84532000	Enhancers	Fetal Heart	heart
35	chr11:84530000-84530200	Enhancers	Left Ventricle	heart
36	chr11:84530000-84530600	Enhancers	NHDF-Ad	bronchial
37	chr11:84530000-84530800	Enhancers	HSMMtube	muscle
38	chr11:84530200-84530400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:84530200-84530600	Enhancers	Fetal Muscle Leg	muscle
40	chr11:84530200-84530600	Enhancers	NH-A	brain
41	chr11:84530200-84531000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:84530200-84535800	Weak transcription	Left Ventricle	heart
43	chr11:84530400-84530800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr11:84530400-84531000	Enhancers	Fetal Lung	lung
45	chr11:84530600-84531000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:84531000-84535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:84532000-84534600	Weak transcription	Fetal Heart	heart
48	chr11:84534600-84537200	Enhancers	Fetal Heart	heart
49	chr11:84535000-84536000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:84535000-84536400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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