Variant report

Variant	nsv521057
Chromosome Location	chr1:98041720-98050656
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	CEBPB	chr1:98049247-98049357	Hela-S3	cervix:	n/a	chr1:98049309-98049320
2	CEBPB	chr1:98047844-98048025	A549	lung:	n/a	chr1:98047947-98047958
3	CEBPB	chr1:98049168-98049482	HepG2	liver:	n/a	chr1:98049309-98049320
4	CEBPB	chr1:98049201-98049463	IMR90	lung:	n/a	chr1:98049309-98049320
5	CEBPB	chr1:98049246-98049365	H1-hESC	embryonic stem cell:	n/a	chr1:98049309-98049320
6	CEBPB	chr1:98049266-98049454	A549	lung:	n/a	chr1:98049309-98049320
7	CEBPB	chr1:98047822-98048112	IMR90	lung:	n/a	chr1:98047947-98047958
8	CEBPB	chr1:98047808-98048044	HepG2	liver:	n/a	chr1:98047947-98047958
9	CEBPB	chr1:98049282-98049304	K562	blood:	n/a	n/a
10	CTCF	chr1:98050042-98050187	GM10248	blood:	n/a	n/a
11	CTCF	chr1:98046838-98046886	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr1:98050091-98050184	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr1:98042894-98042971	Fibrobl	skin:	n/a	n/a
14	CTCF	chr1:98050085-98050176	GM20000	blood:	n/a	n/a
15	CTCF	chr1:98050097-98050183	GM13976	blood:	n/a	n/a
16	CTCF	chr1:98050084-98050186	LNCaP	prostate:	n/a	n/a
17	CTCF	chr1:98045440-98045590	HCM	heart:	n/a	n/a
18	GATA3	chr1:98044172-98044173	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr1:98047235-98047809	A549	lung:	n/a	n/a
20	MAFK	chr1:98048423-98048470	HepG2	liver:	n/a	n/a
21	MAFK	chr1:98047134-98047250	Hela-S3	cervix:	n/a	n/a
22	MAFK	chr1:98047225-98047554	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr1:98045042-98045176	NB4	blood:	n/a	n/a
24	NFYA	chr1:98047896-98048038	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:98042847-98043004	Gliobla	brain:	n/a	n/a
26	POLR2A	chr1:98042866-98042951	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:98042921-98042928	A549	lung:	n/a	n/a
28	SP1	chr1:98047210-98047804	A549	lung:	n/a	n/a
29	STAT3	chr1:98047853-98047887	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF12	chr1:98047065-98047773	A549	lung:	n/a	n/a
31	TCF12	chr1:98046963-98047505	ECC-1	luminal epithelium:	n/a	n/a
32	TEAD4	chr1:98047002-98047512	ECC-1	luminal epithelium:	n/a	n/a
33	TEAD4	chr1:98046963-98047547	ECC-1	luminal epithelium:	n/a	n/a
34	TEAD4	chr1:98047111-98047346	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98043717..98044559-chr1:114764772..114765348,2	Hela-S3	cervix:

Variant related genes	Relation type
RPL26P9	TF binding region

Extended variants
information (count: 344 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:344 , 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	rs10875098	chr1:98041720-98041721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77655777	chr1:98041729-98041730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188166396	chr1:98041737-98041738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114606824	chr1:98041746-98041747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143423547	chr1:98041755-98041756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528598298	chr1:98041810-98041811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148063988	chr1:98041871-98041872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181962409	chr1:98041872-98041873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371990642	chr1:98041966-98041967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531202157	chr1:98041995-98041996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141770955	chr1:98042080-98042081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571169285	chr1:98042087-98042088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539429125	chr1:98042196-98042197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546718293	chr1:98042237-98042238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115810978	chr1:98042298-98042299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186379456	chr1:98042323-98042324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535564253	chr1:98042324-98042325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555501339	chr1:98042333-98042334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35302041	chr1:98042334-98042335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190187229	chr1:98042377-98042378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2811212	chr1:98042396-98042397	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557766859	chr1:98042404-98042405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76622091	chr1:98042412-98042413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377014421	chr1:98042434-98042435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181818895	chr1:98042479-98042480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72732331	chr1:98042554-98042555	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138608951	chr1:98042568-98042569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142799859	chr1:98042581-98042582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528954076	chr1:98042594-98042595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72975717	chr1:98042609-98042610	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541975316	chr1:98042633-98042634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562269216	chr1:98042646-98042647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140765046	chr1:98042691-98042692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542684948	chr1:98042705-98042706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10875099	chr1:98042712-98042713	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531326089	chr1:98042759-98042760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551442806	chr1:98042775-98042776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186586603	chr1:98042778-98042779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72732332	chr1:98042800-98042801	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111341078	chr1:98042816-98042817	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535501219	chr1:98042870-98042871	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548806106	chr1:98042880-98042881	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72732333	chr1:98042908-98042909	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144506302	chr1:98042948-98042949	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191440684	chr1:98042958-98042959	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557969171	chr1:98042967-98042968	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571188249	chr1:98042968-98042969	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533857087	chr1:98042970-98042971	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111242355	chr1:98042997-98042998	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376725376	chr1:98043016-98043017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97976600-98054200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:97976800-98051400	Weak transcription	Left Ventricle	heart
3	chr1:97998600-98063800	Weak transcription	Right Ventricle	heart
4	chr1:97999400-98064600	Weak transcription	Psoas Muscle	Psoas
5	chr1:97999400-98074000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:98001200-98062400	Weak transcription	Fetal Lung	lung
7	chr1:98002000-98054600	Weak transcription	Lung	lung
8	chr1:98002000-98069400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:98002800-98058800	Weak transcription	Gastric	stomach
10	chr1:98004400-98058400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:98007800-98058400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:98007800-98075800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:98009800-98076800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:98009800-98112200	Weak transcription	HSMM	muscle
15	chr1:98012000-98054200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:98013400-98048600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:98013600-98058800	Weak transcription	Esophagus	oesophagus
18	chr1:98015200-98047000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:98015200-98054000	Weak transcription	Adipose Nuclei	Adipose
20	chr1:98015200-98058600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:98015200-98062000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:98015600-98058600	Weak transcription	Osteobl	bone
23	chr1:98020000-98059000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:98020000-98060600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:98023200-98045400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:98023800-98053000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:98025200-98046600	Weak transcription	Thymus	Thymus
28	chr1:98026000-98051400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:98026600-98051200	Weak transcription	Primary B cells from cord blood	blood
30	chr1:98028800-98054200	Weak transcription	Ovary	ovary
31	chr1:98034200-98047000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:98036800-98064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:98037200-98060600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:98037600-98050600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:98037600-98059800	Weak transcription	Fetal Thymus	thymus
36	chr1:98038600-98056200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:98039600-98042200	Weak transcription	Liver	Liver
38	chr1:98039600-98053800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:98039600-98053800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:98039600-98054200	Weak transcription	Dnd41	blood
41	chr1:98039600-98058600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:98039600-98060400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:98039800-98052000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:98039800-98052200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:98039800-98054200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:98039800-98054200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:98039800-98055400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:98040400-98042800	Weak transcription	Primary T cells from cord blood	blood
49	chr1:98041000-98043800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:98041800-98074000	Weak transcription	Aorta	Aorta

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