Variant report

Variant	esv3419442
Chromosome Location	chr10:90587964-90588440
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	FOS	chr10:90588125-90588323	MCF10A-Er-Src	breast:	n/a	chr10:90588259-90588268
2	FOS	chr10:90588131-90588363	MCF10A-Er-Src	breast:	n/a	chr10:90588259-90588268
3	FOS	chr10:90588169-90588369	MCF10A-Er-Src	breast:	n/a	chr10:90588259-90588268
4	FOSL2	chr10:90588165-90588361	HepG2	liver:	n/a	chr10:90588259-90588268
5	JUND	chr10:90588117-90588411	HepG2	liver:	n/a	chr10:90588259-90588268 chr10:90588257-90588268

Variant related genes	Relation type
ANKRD22	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535095057	chr10:90587967-90587968	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541881054	chr10:90587974-90587975	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558794249	chr10:90587995-90587996	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192649922	chr10:90588013-90588014	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184990727	chr10:90588079-90588080	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552485435	chr10:90588109-90588110	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189151380	chr10:90588120-90588121	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs386746348	chr10:90588154-90588155	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs386746349	chr10:90588160-90588161	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs1029025	chr10:90588161-90588162	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12246340	chr10:90588165-90588166	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73367123	chr10:90588180-90588181	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535305286	chr10:90588243-90588244	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3814691	chr10:90588257-90588258	Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs3814692	chr10:90588273-90588274	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369773798	chr10:90588275-90588276	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537677567	chr10:90588276-90588277	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371643524	chr10:90588290-90588291	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375964560	chr10:90588295-90588296	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368957579	chr10:90588299-90588300	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199792091	chr10:90588306-90588307	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376412609	chr10:90588356-90588357	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369585990	chr10:90588367-90588368	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139978877	chr10:90588380-90588381	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557174052	chr10:90588385-90588386	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17851907	chr10:90588402-90588403	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17113412	chr10:90588419-90588420	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553477375	chr10:90588437-90588438	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574965523	chr10:90588440-90588441	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	21147910	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90574200-90598400	Weak transcription	Gastric	stomach
2	chr10:90578000-90607200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:90578400-90591600	Weak transcription	Fetal Stomach	stomach
4	chr10:90578600-90592600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:90578600-90611200	Weak transcription	Esophagus	oesophagus
6	chr10:90579200-90591600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr10:90582600-90591600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr10:90583600-90592800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:90585400-90588000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr10:90585400-90588400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:90585400-90588400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr10:90585600-90588000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:90585600-90590400	Weak transcription	GM12878-XiMat	blood
14	chr10:90586400-90589400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:90587000-90588800	Weak transcription	Fetal Thymus	thymus
16	chr10:90587000-90589400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr10:90587000-90590400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:90587000-90590400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:90587000-90590400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr10:90587000-90590400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr10:90587000-90591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:90587000-90591600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:90587200-90588800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr10:90587400-90588000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr10:90587400-90590400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr10:90587600-90588800	Enhancers	Hela-S3	cervix
27	chr10:90587600-90590400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:90587800-90588400	Weak transcription	Primary T cells from cord blood	blood
29	chr10:90587800-90588800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:90587800-90588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:90587800-90589000	Enhancers	NHDF-Ad	bronchial
32	chr10:90587800-90589200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr10:90588000-90588800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:90588000-90590400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr10:90588000-90590400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:90588400-90589000	Enhancers	Primary hematopoietic stem cells	blood
37	chr10:90588400-90590400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr10:90588400-90594000	Enhancers	Primary T cells from cord blood	blood

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