Variant report

Variant	nsv546630
Chromosome Location	chr1:79506410-79557804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:426)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:79507696-79508185	GM12878	blood:	n/a	n/a
2	ATF2	chr1:79507719-79508191	GM12878	blood:	n/a	n/a
3	ATF2	chr1:79505821-79506890	GM12878	blood:	n/a	n/a
4	ATF2	chr1:79506114-79506881	GM12878	blood:	n/a	n/a
5	BACH1	chr1:79545497-79545905	H1-hESC	embryonic stem cell:	n/a	chr1:79545669-79545683
6	BACH1	chr1:79508075-79508122	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:79507950-79508076	K562	blood:	n/a	n/a
8	BATF	chr1:79506383-79506726	GM12878	blood:	n/a	n/a
9	BATF	chr1:79506304-79506770	GM12878	blood:	n/a	n/a
10	BATF	chr1:79507747-79508138	GM12878	blood:	n/a	n/a
11	BATF	chr1:79507758-79508057	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:79507836-79508150	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:79507862-79508010	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:79506346-79506753	GM12878	blood:	n/a	n/a
15	BCL3	chr1:79506306-79506801	GM12878	blood:	n/a	n/a
16	BCL3	chr1:79507766-79508061	GM12878	blood:	n/a	n/a
17	BCLAF1	chr1:79507869-79508207	GM12878	blood:	n/a	n/a
18	BCLAF1	chr1:79506260-79506789	GM12878	blood:	n/a	n/a
19	BRCA1	chr1:79509475-79509505	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:79521185-79521360	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr1:79521267-79521303	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:79507830-79508119	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr1:79521171-79521337	A549	lung:	n/a	n/a
24	CEBPB	chr1:79506115-79506910	GM12878	blood:	n/a	n/a
25	CREB1	chr1:79507726-79508103	GM12878	blood:	n/a	n/a
26	CREB1	chr1:79506311-79506904	GM12878	blood:	n/a	n/a
27	CREB1	chr1:79507853-79508154	GM12878	blood:	n/a	n/a
28	CREB1	chr1:79506065-79506955	GM12878	blood:	n/a	n/a
29	CTCF	chr1:79535800-79535950	AG04450	lung:	n/a	n/a
30	CTCF	chr1:79510720-79510870	BE2_C	brain:	n/a	n/a
31	CTCF	chr1:79510980-79511130	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr1:79510659-79511028	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:79510861-79510970	GM13977	blood:	n/a	n/a
34	CTCF	chr1:79510620-79510770	HCM	heart:	n/a	n/a
35	CTCF	chr1:79510880-79511030	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr1:79535620-79535770	HCT-116	colon:	n/a	n/a
37	CTCF	chr1:79510760-79510910	GM12867	blood:	n/a	n/a
38	CTCF	chr1:79510820-79510970	A549	lung:	n/a	n/a
39	CTCF	chr1:79535800-79535950	GM12864	blood:	n/a	n/a
40	CTCF	chr1:79510800-79510950	HEK293	kidney:	n/a	n/a
41	CTCF	chr1:79535520-79535670	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr1:79535680-79535830	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr1:79510820-79510970	GM12864	blood:	n/a	n/a
44	CTCF	chr1:79535600-79535750	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr1:79510718-79510986	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:79535760-79535910	RPTEC	kidney:	n/a	n/a
47	CTCF	chr1:79510780-79510930	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:79510740-79510890	RPTEC	kidney:	n/a	n/a
49	CTCF	chr1:79535700-79535850	GM12873	blood:	n/a	n/a
50	CTCF	chr1:79510780-79510930	GM12871	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:79536026..79538535-chr1:79539899..79541790,2	K562	blood:
2	chr1:79527063..79529337-chr1:79533334..79535055,2	K562	blood:
3	chr1:79536026..79538535-chr1:79539899..79541790,2	K562	blood:
4	chr1:79527063..79529337-chr1:79533334..79535055,2	K562	blood:

No data

Variant related genes	Relation type
PSAT1P3	TF binding region

Extended variants
information (count: 1547 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1547 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12046325	chr1:79506410-79506411	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1412731	chr1:79506415-79506416	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570705582	chr1:79506422-79506423	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537479638	chr1:79506471-79506472	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556093442	chr1:79506472-79506473	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143513985	chr1:79506475-79506476	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557406130	chr1:79506476-79506477	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567840009	chr1:79506521-79506522	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535146745	chr1:79506565-79506566	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565209309	chr1:79506574-79506575	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375128963	chr1:79506586-79506587	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187558929	chr1:79506642-79506643	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs531250344	chr1:79506650-79506651	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146388921	chr1:79506664-79506665	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs139773976	chr1:79506674-79506675	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544283576	chr1:79506693-79506694	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562872637	chr1:79506698-79506699	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550659745	chr1:79506704-79506705	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530232988	chr1:79506752-79506753	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs12067957	chr1:79506778-79506779	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560546176	chr1:79506840-79506841	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527528667	chr1:79506842-79506843	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192421504	chr1:79506844-79506845	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12022188	chr1:79506853-79506854	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531584642	chr1:79506895-79506896	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs549530733	chr1:79506986-79506987	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567755582	chr1:79507019-79507020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543220374	chr1:79507024-79507025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535063468	chr1:79507027-79507028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553499434	chr1:79507073-79507074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374482120	chr1:79507113-79507114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367741431	chr1:79507118-79507119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183374399	chr1:79507121-79507122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372771211	chr1:79507203-79507204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77926896	chr1:79507205-79507206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559061772	chr1:79507253-79507254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12069163	chr1:79507259-79507260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544856088	chr1:79507260-79507261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187702944	chr1:79507265-79507266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577371535	chr1:79507274-79507275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369211773	chr1:79507277-79507278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372036026	chr1:79507305-79507306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11162602	chr1:79507323-79507324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192472430	chr1:79507326-79507327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184883698	chr1:79507377-79507378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75214580	chr1:79507414-79507415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564275435	chr1:79507434-79507435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531393366	chr1:79507444-79507445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550078917	chr1:79507484-79507485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61768991	chr1:79507564-79507565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79503400-79507200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:79504600-79508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:79505800-79507000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:79506000-79506800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:79506000-79506800	Active TSS	Right Atrium	heart
6	chr1:79506000-79506800	Flanking Active TSS	HUVEC	blood vessel
7	chr1:79506000-79507000	Active TSS	Adipose Nuclei	Adipose
8	chr1:79506200-79506600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:79506200-79506600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:79506200-79506600	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:79506200-79506600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr1:79506200-79506600	Active TSS	Fetal Muscle Leg	muscle
13	chr1:79506200-79506600	Bivalent/Poised TSS	Ovary	ovary
14	chr1:79506200-79506600	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:79506200-79506600	Active TSS	NH-A	brain
16	chr1:79506200-79506600	Active TSS	NHDF-Ad	bronchial
17	chr1:79506200-79506800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:79506200-79506800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:79506200-79506800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:79506200-79506800	Active TSS	Duodenum Mucosa	Duodenum
21	chr1:79506200-79506800	Active TSS	Fetal Kidney	kidney
22	chr1:79506200-79506800	Active TSS	HMEC	breast
23	chr1:79506200-79507000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:79506200-79507600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:79506400-79506600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:79506400-79506600	Active TSS	GM12878-XiMat	blood
27	chr1:79506400-79506800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:79506400-79506800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:79506400-79506800	Enhancers	HSMM	muscle
30	chr1:79506400-79506800	Active TSS	NHLF	lung
31	chr1:79506400-79506800	Flanking Active TSS	Osteobl	bone
32	chr1:79506400-79507600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:79506600-79506800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:79506600-79506800	Flanking Active TSS	GM12878-XiMat	blood
35	chr1:79506600-79506800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr1:79506600-79506800	Flanking Active TSS	NH-A	brain
37	chr1:79506600-79506800	Flanking Active TSS	NHDF-Ad	bronchial
38	chr1:79506600-79507000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:79506600-79508200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:79506600-79508800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:79506800-79507000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:79506800-79507000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:79506800-79507800	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:79506800-79507800	Enhancers	NHDF-Ad	bronchial
45	chr1:79506800-79508000	Weak transcription	NH-A	brain
46	chr1:79506800-79508200	Weak transcription	NHLF	lung
47	chr1:79506800-79508600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:79506800-79508800	Enhancers	GM12878-XiMat	blood
49	chr1:79506800-79509000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:79506800-79509200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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