Variant report

Variant	nsv946074
Chromosome Location	chr1:92580215-92588466
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	CTCF	chr1:92580959-92580986	GM13977	blood:	n/a	n/a
2	FOS	chr1:92584462-92584766	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
3	FOS	chr1:92584476-92584743	HUVEC	blood vessel:	n/a	chr1:92584594-92584605
4	FOS	chr1:92584440-92584765	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
5	FOS	chr1:92584435-92584766	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
6	FOS	chr1:92584440-92584747	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
7	FOSL1	chr1:92584378-92584846	HCT-116	colon:	n/a	n/a
8	IRF1	chr1:92584203-92584248	K562	blood:	n/a	n/a
9	JUND	chr1:92584494-92584656	K562	blood:	n/a	n/a
10	MAFF	chr1:92583077-92583458	K562	blood:	n/a	chr1:92583263-92583281
11	MAFF	chr1:92583088-92583455	HepG2	liver:	n/a	chr1:92583263-92583281
12	MAFK	chr1:92583089-92583461	HepG2	liver:	n/a	chr1:92583265-92583280
13	MAFK	chr1:92583090-92583461	IMR90	lung:	n/a	chr1:92583265-92583280
14	MAFK	chr1:92583090-92583461	K562	blood:	n/a	chr1:92583265-92583280
15	MAFK	chr1:92583093-92583462	Hela-S3	cervix:	n/a	chr1:92583265-92583280
16	MAFK	chr1:92583114-92583462	HepG2	liver:	n/a	chr1:92583265-92583280
17	MAFK	chr1:92583082-92583455	H1-hESC	embryonic stem cell:	n/a	chr1:92583265-92583280
18	NFYB	chr1:92581264-92581393	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:92580529-92580633	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:92580806-92581015	Gliobla	brain:	n/a	n/a
21	POLR2A	chr1:92580402-92580558	K562	blood:	n/a	n/a
22	SPI1	chr1:92583876-92584337	HL-60	blood:	n/a	n/a
23	SPI1	chr1:92583995-92584327	HL-60	blood:	n/a	n/a
24	STAT3	chr1:92584557-92584639	MCF10A-Er-Src	breast:	n/a	n/a
25	ZNF384	chr1:92584817-92584928	K562	blood:	n/a	n/a

Variant related genes	Relation type
GAPDHP46	TF binding region
PRKAR1AP	TF binding region

Extended variants
information (count: 301 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541173706	chr1:92580358-92580359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559408645	chr1:92580384-92580385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76079035	chr1:92580405-92580406	Weak transcription Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs138967911	chr1:92580556-92580557	Weak transcription Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375707759	chr1:92580570-92580571	Weak transcription Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531272693	chr1:92580583-92580584	Weak transcription Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552576199	chr1:92580634-92580635	Weak transcription Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs143308588	chr1:92580671-92580672	Weak transcription Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556796073	chr1:92580691-92580692	Weak transcription Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184476487	chr1:92580804-92580805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187417029	chr1:92580808-92580809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17131767	chr1:92580826-92580827	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192525313	chr1:92580838-92580839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377042444	chr1:92580862-92580863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377375059	chr1:92580887-92580888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575115416	chr1:92580935-92580936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539749138	chr1:92580957-92580958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112742237	chr1:92580981-92580982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184754805	chr1:92580982-92580983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34586115	chr1:92580994-92580995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573030485	chr1:92581024-92581025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189617809	chr1:92581033-92581034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180837690	chr1:92581039-92581040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115966966	chr1:92581049-92581050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545817335	chr1:92581137-92581138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541906429	chr1:92581145-92581146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137859429	chr1:92581155-92581156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143536185	chr1:92581164-92581165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61781613	chr1:92581177-92581178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143931495	chr1:92581179-92581180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148670824	chr1:92581184-92581185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115418198	chr1:92581185-92581186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547238504	chr1:92581291-92581292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141276288	chr1:92581322-92581323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150768451	chr1:92581365-92581366	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550381637	chr1:92581398-92581399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74102832	chr1:92581399-92581400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184986511	chr1:92581438-92581439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115688760	chr1:92581472-92581473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561122435	chr1:92581555-92581556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139457344	chr1:92581565-92581566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115463006	chr1:92581612-92581613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555157384	chr1:92581614-92581615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189498085	chr1:92581688-92581689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1601023	chr1:92581744-92581745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4437922	chr1:92581818-92581819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575656688	chr1:92581860-92581861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545884225	chr1:92581990-92581991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530240621	chr1:92582014-92582015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181083080	chr1:92582064-92582065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92552200-92580400	Weak transcription	Aorta	Aorta
2	chr1:92552200-92583800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:92552400-92586000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:92552400-92595200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:92552600-92582400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:92552600-92590000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:92552600-92591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:92552600-92613400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:92552800-92613600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:92554400-92583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:92555200-92580400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:92555200-92620400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:92555400-92580400	Weak transcription	Ovary	ovary
14	chr1:92556000-92613600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:92556600-92613400	Weak transcription	Fetal Brain Female	brain
16	chr1:92557400-92598000	Weak transcription	Spleen	Spleen
17	chr1:92558000-92583000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:92558000-92604000	Weak transcription	Left Ventricle	heart
19	chr1:92560000-92613600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:92560400-92580400	Weak transcription	Lung	lung
21	chr1:92560600-92590800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:92561200-92619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:92561600-92590000	Weak transcription	Brain Substantia Nigra	brain
24	chr1:92562600-92582800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:92565600-92583000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:92567200-92624200	Weak transcription	Fetal Stomach	stomach
27	chr1:92567400-92618000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:92567600-92580400	Weak transcription	Pancreas	Pancrea
29	chr1:92567600-92581600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:92568000-92583200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:92568200-92616400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:92569400-92595600	Weak transcription	Brain Germinal Matrix	brain
33	chr1:92569600-92583000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:92569800-92613600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:92570000-92619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:92570400-92589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:92570800-92594800	Weak transcription	Fetal Intestine Large	intestine
38	chr1:92571800-92601600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:92571800-92613400	Weak transcription	Dnd41	blood
40	chr1:92572000-92613400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:92573200-92580600	Weak transcription	Liver	Liver
42	chr1:92573800-92580600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:92574000-92613400	Weak transcription	Fetal Lung	lung
44	chr1:92576200-92583000	Weak transcription	Primary T cells from cord blood	blood
45	chr1:92576200-92595800	Weak transcription	Adipose Nuclei	Adipose
46	chr1:92578600-92581600	Weak transcription	Stomach Mucosa	stomach
47	chr1:92580400-92580600	ZNF genes & repeats	Esophagus	oesophagus
48	chr1:92580400-92580800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:92580400-92580800	ZNF genes & repeats	Lung	lung
50	chr1:92580400-92580800	Strong transcription	Ovary	ovary

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