Variant report

Variant	nsv898033
Chromosome Location	chr11:84319959-84350646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:84344635-84344903	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr11:84323811-84324041	A549	lung:	n/a	n/a
3	CEBPB	chr11:84323767-84324051	IMR90	lung:	n/a	n/a
4	CEBPB	chr11:84348157-84348515	MCF-7	breast:	n/a	n/a
5	ESR1	chr11:84319657-84319966	T-47D	breast:	n/a	n/a
6	ESR1	chr11:84319617-84320127	T-47D	breast:	n/a	n/a
7	ESR1	chr11:84319581-84320034	T-47D	breast:	n/a	n/a
8	ESR1	chr11:84348873-84349381	T-47D	breast:	n/a	n/a
9	ESR1	chr11:84348925-84349318	T-47D	breast:	n/a	n/a
10	FOS	chr11:84323787-84324017	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA1	chr11:84349734-84349974	T-47D	breast:	n/a	n/a
12	FOXA1	chr11:84342027-84342258	T-47D	breast:	n/a	n/a
13	FOXA1	chr11:84348945-84349216	T-47D	breast:	n/a	n/a
14	FOXA1	chr11:84348162-84348449	T-47D	breast:	n/a	n/a
15	FOXA1	chr11:84348950-84349286	T-47D	breast:	n/a	n/a
16	FOXA1	chr11:84348112-84348452	T-47D	breast:	n/a	n/a
17	FOXA1	chr11:84319629-84320100	T-47D	breast:	n/a	n/a
18	FOXA1	chr11:84341793-84342019	T-47D	breast:	n/a	n/a
19	FOXA1	chr11:84341942-84342307	T-47D	breast:	n/a	n/a
20	GATA3	chr11:84348042-84348537	T-47D	breast:	n/a	n/a
21	GATA3	chr11:84333393-84333567	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr11:84348159-84348474	MCF-7	breast:	n/a	n/a
23	GATA3	chr11:84319537-84320222	T-47D	breast:	n/a	n/a
24	GATA3	chr11:84348560-84349340	T-47D	breast:	n/a	n/a
25	GATA3	chr11:84347980-84348623	MCF-7	breast:	n/a	n/a
26	GATA3	chr11:84339480-84339627	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr11:84348800-84349395	MCF-7	breast:	n/a	n/a
28	GATA3	chr11:84348190-84348470	MCF-7	breast:	n/a	n/a
29	GATA3	chr11:84348111-84348551	T-47D	breast:	n/a	n/a
30	GATA3	chr11:84348902-84349309	T-47D	breast:	n/a	n/a
31	GATA3	chr11:84319278-84320263	MCF-7	breast:	n/a	chr11:84319459-84319471
32	GATA3	chr11:84319500-84320109	MCF-7	breast:	n/a	n/a
33	GATA3	chr11:84319568-84320183	T-47D	breast:	n/a	n/a
34	GATA3	chr11:84341755-84342102	T-47D	breast:	n/a	n/a
35	GTF2F1	chr11:84328937-84328989	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUN	chr11:84323715-84324061	HepG2	liver:	n/a	chr11:84323882-84323895
37	JUND	chr11:84323758-84324238	SK-N-SH	brain:	n/a	n/a
38	JUND	chr11:84323701-84324076	HepG2	liver:	n/a	n/a
39	MAFK	chr11:84343626-84343637	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAZ	chr11:84322966-84323064	HepG2	liver:	n/a	n/a
41	NR2F2	chr11:84348109-84348545	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:84336310-84336478	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:84324237-84324382	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:84325816-84326259	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr11:84325535-84325663	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:84327805-84327894	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:84329687-84329772	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:84323483-84323503	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:84320964-84321005	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:84321624-84321750	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84341502..84343647-chr11:84513297..84515436,2	MCF-7	breast:
2	chr11:84331138..84333435-chr11:84335070..84336860,2	MCF-7	breast:
3	chr11:84331138..84333435-chr11:84335070..84336860,2	MCF-7	breast:
4	chr11:84189421..84191994-chr11:84344935..84346949,2	K562	blood:
5	chr11:84346226..84348368-chr11:84348701..84351373,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240174	TF binding region
ENSG00000240174	chromatin interactions

Extended variants
information (count: 931 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:931 , 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	rs1940085	chr11:84319959-84319960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60815199	chr11:84319977-84319978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138980429	chr11:84320034-84320035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576257923	chr11:84320077-84320078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548966134	chr11:84320084-84320085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567276305	chr11:84320085-84320086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536117788	chr11:84320102-84320103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141431944	chr11:84320103-84320104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571297948	chr11:84320118-84320119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193291064	chr11:84320151-84320152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557960164	chr11:84320183-84320184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147000051	chr11:84320288-84320289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534241387	chr11:84320289-84320290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115333206	chr11:84320307-84320308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573984444	chr11:84320330-84320331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1940084	chr11:84320364-84320365	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556616305	chr11:84320371-84320372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138120987	chr11:84320382-84320383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545206496	chr11:84320429-84320430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560406811	chr11:84320452-84320453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183420844	chr11:84320458-84320459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542947528	chr11:84320481-84320482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561906238	chr11:84320499-84320500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560681047	chr11:84320511-84320512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531330736	chr11:84320555-84320556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188670756	chr11:84320566-84320567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114863805	chr11:84320644-84320645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532090554	chr11:84320704-84320705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12274858	chr11:84320774-84320775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs61898993	chr11:84320835-84320836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191639812	chr11:84320861-84320862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534179064	chr11:84320880-84320881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556015550	chr11:84320886-84320887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141720788	chr11:84320940-84320941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184229159	chr11:84320974-84320975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556317233	chr11:84321093-84321094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150855556	chr11:84321111-84321112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544894879	chr11:84321174-84321175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372003682	chr11:84321198-84321199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138205716	chr11:84321208-84321209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556579884	chr11:84321219-84321220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58654368	chr11:84321239-84321240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149570257	chr11:84321321-84321322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188789815	chr11:84321329-84321330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561235471	chr11:84321391-84321392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527399315	chr11:84321398-84321399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542273001	chr11:84321399-84321400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191371138	chr11:84321445-84321446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78337933	chr11:84321496-84321497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183941626	chr11:84321501-84321502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84317800-84320200	Enhancers	Psoas Muscle	Psoas
2	chr11:84317800-84320600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr11:84318400-84320200	Enhancers	Colon Smooth Muscle	Colon
4	chr11:84318400-84320200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:84319000-84320200	Enhancers	Aorta	Aorta
6	chr11:84319000-84320400	Enhancers	Fetal Heart	heart
7	chr11:84319400-84320200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:84319400-84320200	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:84319400-84320200	Enhancers	Gastric	stomach
10	chr11:84319600-84320200	Enhancers	Pancreas	Pancrea
11	chr11:84319600-84321600	Weak transcription	Left Ventricle	heart
12	chr11:84320200-84321600	Weak transcription	Gastric	stomach
13	chr11:84320200-84321600	Weak transcription	Pancreas	Pancrea
14	chr11:84320200-84321600	Weak transcription	Psoas Muscle	Psoas
15	chr11:84320200-84321600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:84320600-84321600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:84321600-84321800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:84321600-84321800	Enhancers	Psoas Muscle	Psoas
19	chr11:84321600-84321800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:84321600-84322000	Enhancers	Left Ventricle	heart
21	chr11:84321600-84322000	Enhancers	Pancreas	Pancrea
22	chr11:84321600-84322000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:84321600-84322200	Enhancers	Gastric	stomach
24	chr11:84324800-84326200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr11:84326200-84331400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:84331400-84332000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr11:84332000-84332600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:84332600-84333200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr11:84333200-84333600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr11:84336000-84339600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:84337200-84337600	Enhancers	Fetal Heart	heart
32	chr11:84337400-84337800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:84339600-84341000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:84339800-84340400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:84339800-84340400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:84339800-84340800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:84339800-84341200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr11:84340400-84345800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:84340800-84346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:84341200-84342400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:84342400-84342800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr11:84342800-84345400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:84344200-84344800	Enhancers	Fetal Heart	heart
44	chr11:84344400-84344800	Enhancers	Psoas Muscle	Psoas
45	chr11:84344400-84344800	Enhancers	HSMMtube	muscle
46	chr11:84344800-84346000	Weak transcription	HSMMtube	muscle
47	chr11:84345200-84346000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:84345400-84345800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr11:84345800-84346200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:84345800-84346200	Enhancers	Pancreatic Islets	Pancreatic Islet

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