Variant report

Variant	nsv946084
Chromosome Location	chr1:94766692-94770101
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	chr1:94765288-94767446	HCT-116	colon:	n/a	n/a
2	CEBPB	chr1:94768907-94769187	IMR90	lung:	n/a	chr1:94769051-94769062
3	CEBPB	chr1:94768982-94769181	HepG2	liver:	n/a	chr1:94769051-94769062
4	E2F4	chr1:94770093-94770401	MCF10A-Er-Src	breast:	n/a	n/a
5	EBF1	chr1:94766709-94766822	GM12878	blood:	n/a	chr1:94766785-94766796
6	FOS	chr1:94767000-94767116	MCF10A-Er-Src	breast:	n/a	chr1:94767015-94767023
7	FOS	chr1:94766904-94767150	MCF10A-Er-Src	breast:	n/a	chr1:94767015-94767023
8	FOSL1	chr1:94765149-94767364	HCT-116	colon:	n/a	chr1:94767015-94767023
9	FOSL1	chr1:94769976-94770706	HCT-116	colon:	n/a	n/a
10	FOSL2	chr1:94769986-94770631	SK-N-SH	brain:	n/a	n/a
11	GATA2	chr1:94770101-94770713	HUVEC	blood vessel:	n/a	chr1:94770366-94770379
12	GATA3	chr1:94770017-94771702	SK-N-SH	brain:	n/a	chr1:94770070-94770080 chr1:94770366-94770379
13	GATA3	chr1:94769947-94770795	SK-N-SH	brain:	n/a	chr1:94770070-94770080 chr1:94770366-94770379
14	MAX	chr1:94769755-94769776	HepG2	liver:	n/a	n/a
15	PBX3	chr1:94770013-94770578	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr1:94767808-94767950	A549	lung:	n/a	n/a
17	POLR2A	chr1:94765226-94767241	HCT-116	colon:	n/a	n/a
18	POLR2A	chr1:94768397-94768434	A549	lung:	n/a	n/a
19	POLR2A	chr1:94768322-94768363	A549	lung:	n/a	n/a
20	POLR2A	chr1:94766715-94767237	HCT-116	colon:	n/a	n/a
21	POLR2A	chr1:94765261-94767058	HCT-116	colon:	n/a	n/a
22	SP1	chr1:94765032-94767451	HCT-116	colon:	n/a	chr1:94765317-94765329 chr1:94765318-94765327
23	SPI1	chr1:94768527-94769408	HL-60	blood:	n/a	chr1:94768616-94768623 chr1:94769156-94769165
24	STAT3	chr1:94769515-94769541	MCF10A-Er-Src	breast:	n/a	n/a
25	TCF12	chr1:94770036-94770721	SK-N-SH	brain:	n/a	chr1:94770543-94770552
26	TCF7L2	chr1:94766608-94767220	HCT-116	colon:	n/a	n/a
27	USF1	chr1:94766778-94767456	HCT-116	colon:	n/a	n/a
28	USF1	chr1:94766731-94767467	HCT-116	colon:	n/a	n/a
29	USF2	chr1:94766981-94767138	Hela-S3	cervix:	n/a	chr1:94767059-94767070
30	YY1	chr1:94766835-94767166	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
GAPDHP29	TF binding region

Extended variants
information (count: 119 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191759995	chr1:94766711-94766712	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs149238015	chr1:94766717-94766718	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs375216176	chr1:94766719-94766720	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527801251	chr1:94766721-94766722	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs181867789	chr1:94766790-94766791	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373324792	chr1:94766797-94766798	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs536940209	chr1:94766877-94766878	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556854392	chr1:94766879-94766880	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs34289758	chr1:94766893-94766894	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76249216	chr1:94766904-94766905	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs186514437	chr1:94766932-94766933	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537822770	chr1:94766939-94766940	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190107418	chr1:94767040-94767041	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577281049	chr1:94767043-94767044	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539944396	chr1:94767062-94767063	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs553548558	chr1:94767084-94767085	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376882694	chr1:94767092-94767093	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs573541177	chr1:94767157-94767158	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568790258	chr1:94767166-94767167	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547755771	chr1:94767187-94767188	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs542542589	chr1:94767254-94767255	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562828335	chr1:94767283-94767284	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567977021	chr1:94767302-94767303	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149711995	chr1:94767304-94767305	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs114341833	chr1:94767331-94767332	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs1542728	chr1:94767401-94767402	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112272305	chr1:94767413-94767414	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547955778	chr1:94767433-94767434	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs148733259	chr1:94767469-94767470	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561455647	chr1:94767489-94767490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530349676	chr1:94767512-94767513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550130956	chr1:94767552-94767553	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570297406	chr1:94767554-94767555	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576561846	chr1:94767582-94767583	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs142336510	chr1:94767688-94767689	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371197250	chr1:94767694-94767695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs151287052	chr1:94767717-94767718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs570957603	chr1:94767746-94767747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs533632714	chr1:94767841-94767842	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553486912	chr1:94767859-94767860	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573480434	chr1:94767894-94767895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539137422	chr1:94767930-94767931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs536417237	chr1:94767964-94767965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs72727457	chr1:94767968-94767969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576245158	chr1:94767976-94767977	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544975060	chr1:94768014-94768015	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs565272930	chr1:94768031-94768032	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12756305	chr1:94768048-94768049	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12756456	chr1:94768119-94768120	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572512401	chr1:94768129-94768130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	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
Acute lymphoblastic leukemia	22237106	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
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94760600-94770000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:94761200-94767000	Enhancers	NHLF	lung
3	chr1:94761200-94767400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:94761200-94768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94762000-94769400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:94762200-94767200	Enhancers	HepG2	liver
7	chr1:94763400-94767200	Weak transcription	Right Ventricle	heart
8	chr1:94763400-94775800	Weak transcription	Psoas Muscle	Psoas
9	chr1:94764200-94767200	Enhancers	Liver	Liver
10	chr1:94764200-94767200	Enhancers	Osteobl	bone
11	chr1:94764400-94767200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:94764400-94767400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:94764400-94767800	Enhancers	HMEC	breast
14	chr1:94764400-94767800	Enhancers	NHDF-Ad	bronchial
15	chr1:94764600-94767200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:94764600-94767200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:94764800-94766800	Enhancers	Fetal Intestine Small	intestine
18	chr1:94764800-94767600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:94764800-94771200	Enhancers	HUVEC	blood vessel
20	chr1:94764800-94772000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:94765000-94767400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:94765000-94768600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:94765200-94766800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:94765200-94767200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:94765200-94767200	Enhancers	Right Atrium	heart
26	chr1:94765200-94767200	Enhancers	NH-A	brain
27	chr1:94765200-94767400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:94765200-94768800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:94765400-94767200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:94765400-94767800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:94765600-94767200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:94765600-94768000	Weak transcription	Ovary	ovary
33	chr1:94765800-94766800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:94765800-94767000	Weak transcription	Left Ventricle	heart
35	chr1:94765800-94767000	Weak transcription	Lung	lung
36	chr1:94765800-94768000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:94765800-94768000	Weak transcription	Pancreas	Pancrea
38	chr1:94765800-94768200	Weak transcription	Gastric	stomach
39	chr1:94765800-94768600	Enhancers	Adipose Nuclei	Adipose
40	chr1:94765800-94769200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:94765800-94770800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:94766000-94767000	Weak transcription	Spleen	Spleen
43	chr1:94766000-94767400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:94766000-94767400	Enhancers	Hela-S3	cervix
45	chr1:94766000-94767400	Enhancers	NHEK	skin
46	chr1:94766000-94768200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:94766000-94770000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:94766000-94770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:94766000-94772600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:94766000-94774600	Weak transcription	Fetal Lung	lung

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