Variant report

Variant	nsv528603
Chromosome Location	chr10:91119644-91124029
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	ARID3A	chr10:91122665-91123100	K562	blood:	n/a	n/a
2	ATF1	chr10:91122767-91123013	K562	blood:	n/a	n/a
3	BHLHE40	chr10:91122733-91122978	K562	blood:	n/a	n/a
4	CCNT2	chr10:91122766-91123050	K562	blood:	n/a	n/a
5	CEBPD	chr10:91122623-91123112	K562	blood:	n/a	n/a
6	CEBPD	chr10:91122572-91123086	K562	blood:	n/a	n/a
7	CUX1	chr10:91123774-91123785	K562	blood:	n/a	n/a
8	CUX1	chr10:91122753-91123054	K562	blood:	n/a	n/a
9	ELK1	chr10:91123964-91124005	GM12878	blood:	n/a	n/a
10	EP300	chr10:91123736-91124132	GM12878	blood:	n/a	n/a
11	EP300	chr10:91122871-91122989	K562	blood:	n/a	n/a
12	EP300	chr10:91122664-91123097	K562	blood:	n/a	n/a
13	GABPA	chr10:91122820-91122990	K562	blood:	n/a	n/a
14	GATA1	chr10:91122472-91123206	K562	blood:	n/a	n/a
15	GATA1	chr10:91121935-91123400	PBDE	blood:	n/a	n/a
16	GATA2	chr10:91122631-91123146	K562	blood:	n/a	n/a
17	GATA2	chr10:91122736-91123028	K562	blood:	n/a	n/a
18	IRF1	chr10:91122701-91123169	K562	blood:	n/a	n/a
19	IRF1	chr10:91122691-91123119	K562	blood:	n/a	n/a
20	JUND	chr10:91122546-91123017	K562	blood:	n/a	n/a
21	MAFK	chr10:91122740-91122842	K562	blood:	n/a	n/a
22	MAX	chr10:91123799-91124216	GM12878	blood:	n/a	chr10:91123936-91123945 chr10:91123934-91123944 chr10:91123934-91123945 chr10:91123935-91123945 chr10:91123935-91123945 chr10:91123933-91123946
23	MAX	chr10:91123828-91124035	K562	blood:	n/a	chr10:91123936-91123945 chr10:91123934-91123944 chr10:91123934-91123945 chr10:91123935-91123945 chr10:91123935-91123945 chr10:91123933-91123946
24	MAZ	chr10:91122660-91122990	K562	blood:	n/a	n/a
25	MEF2A	chr10:91123437-91123670	K562	blood:	n/a	chr10:91123568-91123582 chr10:91123567-91123582 chr10:91123569-91123580 chr10:91123563-91123584 chr10:91123567-91123583 chr10:91123563-91123584 chr10:91123567-91123582 chr10:91123570-91123579 chr10:91123563-91123584 chr10:91123566-91123583
26	MXI1	chr10:91123838-91124052	GM12878	blood:	n/a	chr10:91123936-91123945
27	MYC	chr10:91122790-91122991	K562	blood:	n/a	n/a
28	MYC	chr10:91122679-91123119	K562	blood:	n/a	n/a
29	NFIC	chr10:91123832-91124412	GM12878	blood:	n/a	n/a
30	NFYB	chr10:91123854-91124191	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:91122825-91122926	K562	blood:	n/a	n/a
32	POLR2A	chr10:91122672-91123046	K562	blood:	n/a	n/a
33	POLR2A	chr10:91122683-91122996	K562	blood:	n/a	n/a
34	RCOR1	chr10:91122520-91123134	K562	blood:	n/a	n/a
35	RCOR1	chr10:91123593-91124078	GM12878	blood:	n/a	n/a
36	RCOR1	chr10:91122750-91123062	K562	blood:	n/a	n/a
37	REST	chr10:91122835-91122962	K562	blood:	n/a	n/a
38	RFX5	chr10:91123791-91123964	HepG2	liver:	n/a	n/a
39	RUNX3	chr10:91123829-91124388	GM12878	blood:	n/a	n/a
40	SPI1	chr10:91123736-91124148	GM12891	blood:	n/a	n/a
41	SPI1	chr10:91123696-91124172	GM12891	blood:	n/a	n/a
42	SPI1	chr10:91122805-91122979	K562	blood:	n/a	n/a
43	SPI1	chr10:91123847-91124039	GM12878	blood:	n/a	n/a
44	SPI1	chr10:91123782-91124137	GM12878	blood:	n/a	n/a
45	TAL1	chr10:91122595-91123214	K562	blood:	n/a	n/a
46	TBL1XR1	chr10:91122824-91123064	K562	blood:	n/a	n/a
47	TBL1XR1	chr10:91122688-91123097	K562	blood:	n/a	n/a
48	TEAD4	chr10:91122640-91123094	K562	blood:	n/a	n/a
49	TEAD4	chr10:91122641-91123099	K562	blood:	n/a	n/a
50	USF2	chr10:91123832-91124224	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91115941..91117620-chr10:91122098..91123707,2	MCF-7	breast:

Variant related genes	Relation type
IFIT6P	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10509572	chr10:91119644-91119645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190875937	chr10:91119665-91119666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183017205	chr10:91119674-91119675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76711265	chr10:91119699-91119700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs812451	chr10:91119729-91119730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs552642065	chr10:91119735-91119736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564467436	chr10:91119756-91119757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528421816	chr10:91119819-91119820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143073389	chr10:91119823-91119824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568319487	chr10:91119961-91119962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535296090	chr10:91119984-91119985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550710894	chr10:91119991-91119992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147492193	chr10:91120046-91120047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373510022	chr10:91120118-91120119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547370575	chr10:91120156-91120157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35950592	chr10:91120174-91120175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557360883	chr10:91120184-91120185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74146914	chr10:91120191-91120192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138271679	chr10:91120201-91120202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553272669	chr10:91120223-91120224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571170411	chr10:91120261-91120262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575029375	chr10:91120264-91120265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs305374	chr10:91120287-91120288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs563894224	chr10:91120342-91120343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575694569	chr10:91120397-91120398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530684972	chr10:91120398-91120399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187308762	chr10:91120402-91120403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528519165	chr10:91120403-91120404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540588970	chr10:91120445-91120446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561846631	chr10:91120447-91120448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529179639	chr10:91120491-91120492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550549233	chr10:91120583-91120584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576605918	chr10:91120590-91120591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569013240	chr10:91120607-91120608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532898081	chr10:91120616-91120617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78353382	chr10:91120640-91120641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11203091	chr10:91120653-91120654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143885417	chr10:91120670-91120671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144385634	chr10:91120676-91120677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568697195	chr10:91120707-91120708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148786490	chr10:91120815-91120816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142458926	chr10:91120824-91120825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541028165	chr10:91120906-91120907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192962970	chr10:91120913-91120914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150871186	chr10:91120935-91120936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12773053	chr10:91121010-91121011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555266052	chr10:91121014-91121015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78168359	chr10:91121044-91121045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116110337	chr10:91121064-91121065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573336886	chr10:91121137-91121138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91108600-91122200	Weak transcription	Spleen	Spleen
2	chr10:91112400-91120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:91112400-91122400	Weak transcription	Esophagus	oesophagus
4	chr10:91112400-91127400	Weak transcription	Left Ventricle	heart
5	chr10:91113200-91122200	Weak transcription	Placenta	Placenta
6	chr10:91116200-91122000	Weak transcription	K562	blood
7	chr10:91116600-91120000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:91117000-91122000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr10:91117000-91127800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:91117200-91119800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:91117200-91119800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:91117200-91120000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:91117200-91122000	Weak transcription	Fetal Heart	heart
14	chr10:91117200-91127400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:91117200-91127400	Weak transcription	Fetal Muscle Leg	muscle
16	chr10:91117400-91120000	Weak transcription	Fetal Kidney	kidney
17	chr10:91117400-91124000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:91117600-91120200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:91118000-91122200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:91119000-91122200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:91119200-91120000	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:91119200-91121000	Enhancers	Fetal Intestine Large	intestine
23	chr10:91119400-91120600	Enhancers	Fetal Intestine Small	intestine
24	chr10:91119400-91120600	Enhancers	Stomach Mucosa	stomach
25	chr10:91119400-91122200	Weak transcription	Right Atrium	heart
26	chr10:91119600-91120200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr10:91119600-91133800	Weak transcription	Pancreas	Pancrea
28	chr10:91119800-91120200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:91119800-91120400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr10:91120000-91120200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:91120000-91120200	Enhancers	Fetal Kidney	kidney
32	chr10:91120000-91120600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:91120000-91121200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:91120000-91127200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:91120200-91120400	Weak transcription	Fetal Kidney	kidney
36	chr10:91120200-91122200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:91120400-91127000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:91120600-91122200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:91120600-91122400	Weak transcription	Fetal Intestine Small	intestine
40	chr10:91121000-91127200	Weak transcription	Fetal Intestine Large	intestine
41	chr10:91121200-91121400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:91121400-91121800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:91121600-91123000	Weak transcription	GM12878-XiMat	blood
44	chr10:91121800-91125000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:91122000-91123400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr10:91122000-91124000	Enhancers	K562	blood
47	chr10:91122000-91125200	Enhancers	Fetal Heart	heart
48	chr10:91122200-91122600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:91122200-91122600	Enhancers	Placenta	Placenta
50	chr10:91122200-91122600	Enhancers	Ovary	ovary

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