Variant report

Variant	nsv978980
Chromosome Location	chr2:11591797-11593805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr2:11591697-11591985	K562	blood:	n/a	n/a
2	JUN	chr2:11593564-11593736	HepG2	liver:	n/a	n/a
3	JUND	chr2:11593584-11593868	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:11593129-11593316	K562	blood:	n/a	n/a
5	POLR2A	chr2:11592973-11592990	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:11593655-11593736	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:11592233-11592359	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11593105..11594896-chr2:11598132..11599840,2	K562	blood:
2	chr2:11586966..11589514-chr2:11592035..11594958,3	K562	blood:
3	chr2:11592749..11596634-chr2:11604210..11607773,3	K562	blood:

Variant related genes	Relation type
E2F6	TF binding region
ENSG00000169016	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201487102	chr2:11591862-11591863	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372426239	chr2:11591866-11591867	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556818747	chr2:11591887-11591888	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34701762	chr2:11591910-11591911	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs375413383	chr2:11591916-11591917	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369800983	chr2:11591951-11591952	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139506111	chr2:11591971-11591972	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs542218591	chr2:11591993-11591994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370182648	chr2:11592026-11592027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572814131	chr2:11592074-11592075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183040915	chr2:11592096-11592097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373919308	chr2:11592113-11592114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565162526	chr2:11592134-11592135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57030985	chr2:11592148-11592149	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377710517	chr2:11592219-11592220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544395138	chr2:11592240-11592241	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144343435	chr2:11592278-11592279	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530178972	chr2:11592281-11592282	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs6751915	chr2:11592294-11592295	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs560483473	chr2:11592394-11592395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527666206	chr2:11592471-11592472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375838578	chr2:11592528-11592529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7424316	chr2:11592550-11592551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186334384	chr2:11592557-11592558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538101026	chr2:11592559-11592560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550302498	chr2:11592586-11592587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568869440	chr2:11592587-11592588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61486551	chr2:11592591-11592592	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370520117	chr2:11592600-11592601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374191028	chr2:11592637-11592638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368315296	chr2:11592648-11592649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554161793	chr2:11592662-11592663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561496470	chr2:11592679-11592680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533526937	chr2:11592685-11592686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558627819	chr2:11592725-11592726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75432395	chr2:11592735-11592736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577022628	chr2:11592753-11592754	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544087942	chr2:11592784-11592785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191089890	chr2:11592905-11592906	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575009620	chr2:11592907-11592908	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542370831	chr2:11592915-11592916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184178658	chr2:11592916-11592917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527727783	chr2:11592920-11592921	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570824499	chr2:11592933-11592934	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140146545	chr2:11593082-11593083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564627200	chr2:11593097-11593098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531990918	chr2:11593115-11593116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs56109303	chr2:11593260-11593261	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568284355	chr2:11593263-11593264	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531752435	chr2:11593298-11593299	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11575800-11597000	Weak transcription	Fetal Heart	heart
2	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
3	chr2:11578600-11594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:11579200-11594000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:11580000-11593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
8	chr2:11580400-11591800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:11580400-11596000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:11580600-11594000	Strong transcription	Placenta	Placenta
11	chr2:11581000-11596400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:11581200-11597000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:11581800-11593600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:11581800-11596400	Strong transcription	Liver	Liver
15	chr2:11582600-11594400	Strong transcription	NH-A	brain
16	chr2:11582800-11595600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:11583000-11594000	Strong transcription	K562	blood
18	chr2:11583600-11594400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:11583800-11594200	Strong transcription	Osteobl	bone
20	chr2:11583800-11596800	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr2:11583800-11597600	Strong transcription	HepG2	liver
22	chr2:11584000-11593400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:11584200-11593800	Strong transcription	HSMM	muscle
24	chr2:11584200-11596000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:11584200-11597000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:11584400-11593800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:11584400-11594200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:11584400-11596400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:11584400-11598800	Strong transcription	A549	lung
30	chr2:11584400-11599600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:11585000-11596200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:11585000-11596800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:11585000-11597600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:11585200-11597200	Strong transcription	Dnd41	blood
35	chr2:11585400-11592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:11586000-11591800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:11586400-11593800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:11586400-11593800	Strong transcription	Fetal Thymus	thymus
39	chr2:11586400-11594000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:11586400-11594400	Strong transcription	HUVEC	blood vessel
41	chr2:11586400-11595400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:11586400-11596800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:11586400-11598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:11586600-11593400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:11586600-11593400	Strong transcription	Brain Hippocampus Middle	brain
46	chr2:11586600-11593400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:11586600-11594000	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:11586600-11595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:11586600-11597000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr2:11586600-11598800	Strong transcription	Hela-S3	cervix

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