Variant report

Variant	nsv946071
Chromosome Location	chr1:92060669-92067233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:92061893-92062464	K562	blood:	n/a	n/a
2	ATF1	chr1:92062145-92062332	K562	blood:	n/a	n/a
3	ATF3	chr1:92062075-92062415	K562	blood:	n/a	n/a
4	ATF3	chr1:92062109-92062316	K562	blood:	n/a	n/a
5	BACH1	chr1:92062162-92062363	K562	blood:	n/a	n/a
6	BHLHE40	chr1:92061912-92062196	K562	blood:	n/a	n/a
7	CCNT2	chr1:92062081-92062362	K562	blood:	n/a	n/a
8	CEBPB	chr1:92062122-92062318	K562	blood:	n/a	n/a
9	CEBPB	chr1:92062079-92062348	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:92061977-92062416	K562	blood:	n/a	n/a
11	CEBPB	chr1:92062090-92062344	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr1:92062041-92062417	K562	blood:	n/a	n/a
13	CTCF	chr1:92067200-92067350	GM12867	blood:	n/a	chr1:92067323-92067332
14	CUX1	chr1:92062138-92062409	K562	blood:	n/a	n/a
15	EP300	chr1:92061995-92062441	K562	blood:	n/a	n/a
16	EP300	chr1:92067232-92067432	K562	blood:	n/a	chr1:92067289-92067305
17	FOS	chr1:92062062-92062400	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:92062072-92062368	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:92062060-92062415	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:92062054-92062368	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL1	chr1:92062039-92062452	K562	blood:	n/a	n/a
22	GATA1	chr1:92061555-92062884	PBDE	blood:	n/a	n/a
23	GATA2	chr1:92062018-92062508	K562	blood:	n/a	n/a
24	IRF1	chr1:92061888-92062346	K562	blood:	n/a	n/a
25	IRF1	chr1:92062041-92062365	K562	blood:	n/a	n/a
26	JUN	chr1:92062073-92062684	K562	blood:	n/a	n/a
27	JUN	chr1:92060640-92062707	K562	blood:	n/a	n/a
28	JUN	chr1:92062033-92062419	K562	blood:	n/a	n/a
29	JUN	chr1:92062052-92062411	K562	blood:	n/a	n/a
30	JUND	chr1:92062034-92062424	K562	blood:	n/a	n/a
31	MAFF	chr1:92062033-92062361	K562	blood:	n/a	n/a
32	MAFK	chr1:92062157-92062329	HepG2	liver:	n/a	n/a
33	MAFK	chr1:92062038-92062359	K562	blood:	n/a	n/a
34	MAFK	chr1:92062107-92062339	IMR90	lung:	n/a	n/a
35	MAFK	chr1:92062073-92062333	Hela-S3	cervix:	n/a	n/a
36	MAX	chr1:92067233-92067410	K562	blood:	n/a	n/a
37	MYC	chr1:92062112-92062334	K562	blood:	n/a	n/a
38	POLR2A	chr1:92062746-92063310	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr1:92064913-92064914	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr1:92062712-92063288	H1-neurons	neurons:	n/a	n/a
41	RCOR1	chr1:92062044-92062458	K562	blood:	n/a	n/a
42	RCOR1	chr1:92067169-92067466	K562	blood:	n/a	n/a
43	REST	chr1:92062640-92063347	H1-neurons	neurons:	n/a	n/a
44	REST	chr1:92062687-92063385	H1-neurons	neurons:	n/a	n/a
45	SIN3A	chr1:92066653-92066760	H1-hESC	embryonic stem cell:	n/a	n/a
46	STAT3	chr1:92064074-92064084	MCF10A-Er-Src	breast:	n/a	n/a
47	TAL1	chr1:92062128-92062355	K562	blood:	n/a	n/a
48	TBL1XR1	chr1:92062083-92062626	K562	blood:	n/a	n/a
49	ZMIZ1	chr1:92062258-92062402	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92049054..92051542-chr1:92061265..92062961,2	K562	blood:
2	chr1:91869482..91871646-chr1:92060794..92063314,2	K562	blood:
3	chr1:92057409..92061312-chr1:92170673..92173610,3	K562	blood:
4	chr1:92059728..92061441-chr1:92068842..92071690,2	K562	blood:
5	chr1:91999544..92001051-chr1:92060316..92062281,2	K562	blood:
6	chr1:92060019..92063789-chr1:92065058..92070338,4	K562	blood:
7	chr1:92038932..92042320-chr1:92059008..92062228,3	K562	blood:
8	chr1:92056853..92058906-chr1:92058997..92061738,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229067	TF binding region
ENSG00000162669	chromatin interactions
ENSG00000229067	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150292271	chr1:92060692-92060693	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546301746	chr1:92060713-92060714	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186694438	chr1:92060753-92060754	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116274622	chr1:92060830-92060831	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs532173136	chr1:92060838-92060839	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs137949812	chr1:92060885-92060886	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191278416	chr1:92060898-92060899	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12025198	chr1:92060913-92060914	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35891364	chr1:92061013-92061014	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs4658237	chr1:92061045-92061046	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554306684	chr1:92061074-92061075	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142452996	chr1:92061089-92061090	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375612037	chr1:92061135-92061136	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs17131499	chr1:92061160-92061161	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569476216	chr1:92061174-92061175	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556666552	chr1:92061187-92061188	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577950389	chr1:92061200-92061201	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545421565	chr1:92061205-92061206	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs554150862	chr1:92061250-92061251	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372043784	chr1:92061253-92061254	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543359151	chr1:92061281-92061282	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs181164884	chr1:92061292-92061293	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531987360	chr1:92061378-92061379	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543534051	chr1:92061388-92061389	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565025847	chr1:92061396-92061397	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs116080660	chr1:92061432-92061433	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs12031250	chr1:92061445-92061446	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565552811	chr1:92061486-92061487	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144820808	chr1:92061504-92061505	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548081072	chr1:92061532-92061533	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185912830	chr1:92061534-92061535	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12724865	chr1:92061579-92061580	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79176839	chr1:92061630-92061631	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571744088	chr1:92061669-92061670	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373788383	chr1:92061675-92061676	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs111576856	chr1:92061686-92061687	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs554102704	chr1:92061717-92061718	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs112490026	chr1:92061748-92061749	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs536901864	chr1:92061750-92061751	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs111356107	chr1:92061767-92061768	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576694418	chr1:92061806-92061807	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs57052456	chr1:92061850-92061851	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56104018	chr1:92061853-92061854	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565359637	chr1:92061870-92061871	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs35687455	chr1:92061898-92061899	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs190317649	chr1:92061931-92061932	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540191318	chr1:92061986-92061987	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111404753	chr1:92061987-92061988	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs199537381	chr1:92061996-92061997	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540776413	chr1:92061997-92061998	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92049600-92061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:92051800-92067600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:92055000-92060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:92055400-92061200	Enhancers	Ovary	ovary
5	chr1:92055600-92061400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:92056000-92062200	Enhancers	Fetal Heart	heart
8	chr1:92057200-92070400	Weak transcription	Psoas Muscle	Psoas
9	chr1:92057600-92061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:92057600-92063400	Enhancers	K562	blood
11	chr1:92057800-92061600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:92058400-92061800	Enhancers	Placenta	Placenta
13	chr1:92058800-92061400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:92059600-92066200	Weak transcription	Fetal Stomach	stomach
15	chr1:92059600-92067200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:92059800-92068800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:92060000-92060800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:92060000-92060800	Enhancers	Colon Smooth Muscle	Colon
19	chr1:92060000-92060800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:92060000-92060800	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:92060000-92060800	Enhancers	Right Atrium	heart
22	chr1:92060000-92060800	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:92060600-92060800	Enhancers	Left Ventricle	heart
24	chr1:92060600-92061600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:92060600-92067200	Weak transcription	Lung	lung
26	chr1:92060600-92070200	Weak transcription	Right Ventricle	heart
27	chr1:92060800-92062600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:92060800-92066400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:92060800-92066400	Weak transcription	Right Atrium	heart
30	chr1:92060800-92067200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:92060800-92067600	Weak transcription	Left Ventricle	heart
32	chr1:92060800-92070200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:92061200-92063000	Enhancers	NHDF-Ad	bronchial
34	chr1:92061200-92070000	Weak transcription	Ovary	ovary
35	chr1:92061400-92062400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:92061400-92063200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:92061600-92061800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:92061600-92061800	Enhancers	NHLF	lung
39	chr1:92061600-92062000	Enhancers	HSMMtube	muscle
40	chr1:92061600-92062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:92061600-92062400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:92061600-92063400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:92061800-92062200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:92061800-92062200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:92061800-92064400	Weak transcription	Placenta	Placenta
46	chr1:92062200-92062400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:92062200-92062600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr1:92062200-92064800	Weak transcription	Fetal Heart	heart
49	chr1:92062400-92062600	Enhancers	NHLF	lung
50	chr1:92062400-92074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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