Variant report

Variant	nsv872559
Chromosome Location	chr1:174803606-174819336
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	ARID3A	chr1:174810183-174810205	K562	blood:	n/a	n/a
2	ARID3A	chr1:174818480-174818752	K562	blood:	n/a	n/a
3	ATF2	chr1:174810860-174811256	GM12878	blood:	n/a	n/a
4	ATF2	chr1:174810826-174811243	GM12878	blood:	n/a	n/a
5	BATF	chr1:174810967-174811186	GM12878	blood:	n/a	n/a
6	BATF	chr1:174810945-174811179	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:174810953-174811174	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:174810961-174811181	GM12878	blood:	n/a	n/a
9	CEBPB	chr1:174810813-174811218	GM12878	blood:	n/a	n/a
10	CUX1	chr1:174810924-174811133	GM12878	blood:	n/a	n/a
11	E2F4	chr1:174806839-174806876	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr1:174808750-174808927	GM12878	blood:	n/a	n/a
13	EP300	chr1:174810913-174811184	GM12878	blood:	n/a	chr1:174810995-174811009
14	EP300	chr1:174818471-174818771	K562	blood:	n/a	n/a
15	EP300	chr1:174818378-174818634	GM12878	blood:	n/a	n/a
16	FOS	chr1:174809596-174809796	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:174818464-174818640	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:174809551-174809802	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:174809584-174809833	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:174818362-174818721	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:174809557-174809790	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:174818402-174818707	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr1:174808091-174808285	MCF10A-Er-Src	breast:	n/a	chr1:174808097-174808105
24	FOS	chr1:174805889-174806067	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:174805864-174806106	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:174808096-174808306	MCF10A-Er-Src	breast:	n/a	chr1:174808097-174808105
27	FOS	chr1:174808015-174808227	MCF10A-Er-Src	breast:	n/a	chr1:174808097-174808105
28	FOS	chr1:174805834-174806138	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:174818407-174818767	MCF10A-Er-Src	breast:	n/a	n/a
30	FOXA1	chr1:174817830-174817961	HepG2	liver:	n/a	n/a
31	FOXA2	chr1:174817575-174818284	A549	lung:	n/a	n/a
32	FOXA2	chr1:174817668-174818054	A549	lung:	n/a	n/a
33	FOXM1	chr1:174810864-174811355	GM12878	blood:	n/a	n/a
34	FOXM1	chr1:174810777-174811330	GM12878	blood:	n/a	n/a
35	GATA3	chr1:174809115-174809266	SH-SY5Y	brain:	n/a	n/a
36	HEY1	chr1:174818271-174818539	K562	blood:	n/a	n/a
37	HEY1	chr1:174818283-174818495	K562	blood:	n/a	n/a
38	HEY1	chr1:174817867-174818029	K562	blood:	n/a	n/a
39	IRF1	chr1:174818258-174818797	K562	blood:	n/a	chr1:174818406-174818423 chr1:174818412-174818429 chr1:174818412-174818426 chr1:174818412-174818433 chr1:174818455-174818476 chr1:174818418-174818432 chr1:174818511-174818528 chr1:174818411-174818422
40	IRF1	chr1:174818369-174818758	K562	blood:	n/a	chr1:174818406-174818423 chr1:174818412-174818429 chr1:174818412-174818426 chr1:174818412-174818433 chr1:174818455-174818476 chr1:174818418-174818432 chr1:174818511-174818528 chr1:174818411-174818422
41	IRF1	chr1:174809123-174809323	K562	blood:	n/a	n/a
42	IRF1	chr1:174818264-174819024	K562	blood:	n/a	chr1:174818406-174818423 chr1:174818412-174818429 chr1:174818412-174818426 chr1:174818412-174818433 chr1:174818455-174818476 chr1:174818418-174818432 chr1:174818511-174818528 chr1:174818411-174818422
43	JUN	chr1:174818528-174818587	K562	blood:	n/a	n/a
44	JUND	chr1:174808252-174808285	HepG2	liver:	n/a	n/a
45	JUND	chr1:174818370-174818676	K562	blood:	n/a	n/a
46	MAFF	chr1:174804603-174804885	HepG2	liver:	n/a	chr1:174804738-174804756
47	MAFF	chr1:174818449-174818748	K562	blood:	n/a	n/a
48	MAFK	chr1:174809542-174809567	HepG2	liver:	n/a	n/a
49	MAFK	chr1:174804598-174804912	IMR90	lung:	n/a	chr1:174804740-174804755
50	MAFK	chr1:174818586-174818592	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174805015..174806960-chr1:174807361..174809461,2	K562	blood:
2	chr1:174802465..174804337-chr1:174807941..174810779,2	MCF-7	breast:
3	chr1:174818265..174820720-chr1:174969337..174970845,2	K562	blood:
4	chr1:174810056..174811969-chr1:174966210..174968359,2	K562	blood:
5	chr1:174804519..174806652-chr1:174968482..174970506,2	MCF-7	breast:
6	chr1:174802465..174804337-chr1:174807941..174810779,2	MCF-7	breast:
7	chr1:174768938..174770778-chr1:174801849..174804479,2	K562	blood:
8	chr1:174798481..174800550-chr1:174807771..174810609,2	MCF-7	breast:
9	chr1:174803637..174805618-chr1:174962090..174964287,2	K562	blood:
10	chr1:174801846..174803721-chr1:174966290..174968763,2	K562	blood:
11	chr1:174805015..174806960-chr1:174807361..174809461,2	K562	blood:

Variant related genes	Relation type
NDUFAF4P4	TF binding region
ENSG00000152061	chromatin interactions
ENSG00000116161	chromatin interactions

Extended variants
information (count: 436 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10912843	chr1:174803606-174803607	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113450516	chr1:174803607-174803608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs72717626	chr1:174803629-174803630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148059119	chr1:174803630-174803631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560814530	chr1:174803642-174803643	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183138373	chr1:174803747-174803748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141808388	chr1:174803748-174803749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374715374	chr1:174803750-174803751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71645218	chr1:174803753-174803754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575785328	chr1:174803867-174803868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562895112	chr1:174803875-174803876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115310155	chr1:174803970-174803971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187823530	chr1:174803979-174803980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576331650	chr1:174803984-174803985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570595528	chr1:174804023-174804024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539418752	chr1:174804100-174804101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77460108	chr1:174804173-174804174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192506318	chr1:174804253-174804254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369033968	chr1:174804263-174804264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544584563	chr1:174804333-174804334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555636444	chr1:174804343-174804344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184518178	chr1:174804425-174804426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537689128	chr1:174804440-174804441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201793530	chr1:174804479-174804480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189331501	chr1:174804495-174804496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1894198	chr1:174804531-174804532	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs73028402	chr1:174804611-174804612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1894199	chr1:174804683-174804684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs140981818	chr1:174804731-174804732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367730228	chr1:174804739-174804740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573984147	chr1:174804780-174804781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542951137	chr1:174804795-174804796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192588409	chr1:174804829-174804830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531929271	chr1:174804883-174804884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552031773	chr1:174804932-174804933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565501650	chr1:174804963-174804964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533025631	chr1:174804989-174804990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374679091	chr1:174805027-174805028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184459369	chr1:174805029-174805030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189217967	chr1:174805037-174805038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528928443	chr1:174805090-174805091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548996478	chr1:174805097-174805098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532702457	chr1:174805100-174805101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1754352	chr1:174805122-174805123	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs181305351	chr1:174805168-174805169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568969010	chr1:174805179-174805180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139065814	chr1:174805187-174805188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562958674	chr1:174805222-174805223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376568241	chr1:174805285-174805286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571123213	chr1:174805298-174805299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
3	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:174798400-174810800	Weak transcription	GM12878-XiMat	blood
5	chr1:174801800-174808400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:174802000-174804800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:174802200-174806800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:174803800-174804600	Weak transcription	Brain Anterior Caudate	brain
9	chr1:174804600-174804800	Enhancers	Brain Anterior Caudate	brain
10	chr1:174804800-174805000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:174804800-174805800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:174805000-174805800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:174805600-174806000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:174805600-174806000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:174805600-174806000	Enhancers	Fetal Heart	heart
16	chr1:174805600-174806000	Enhancers	NHEK	skin
17	chr1:174805800-174806000	Enhancers	Brain Anterior Caudate	brain
18	chr1:174805800-174806000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:174805800-174806600	Enhancers	HSMM	muscle
20	chr1:174805800-174806800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:174805800-174807400	Enhancers	Brain Substantia Nigra	brain
22	chr1:174806000-174806400	Weak transcription	Brain Anterior Caudate	brain
23	chr1:174806000-174806400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:174806400-174807000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:174806400-174807600	Enhancers	Brain Anterior Caudate	brain
26	chr1:174806600-174806800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:174806600-174807000	Enhancers	HSMMtube	muscle
28	chr1:174806600-174808200	Weak transcription	HSMM	muscle
29	chr1:174806800-174807200	Enhancers	Brain Angular Gyrus	brain
30	chr1:174806800-174807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:174806800-174807800	Enhancers	Brain Hippocampus Middle	brain
32	chr1:174807000-174808200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:174807000-174808200	Weak transcription	HSMMtube	muscle
34	chr1:174807000-174808400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:174807400-174807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:174807400-174808200	Weak transcription	Brain Substantia Nigra	brain
37	chr1:174807600-174808400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:174807800-174808200	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:174808000-174808600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:174808000-174808800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:174808200-174808600	Enhancers	Brain Substantia Nigra	brain
42	chr1:174808200-174809400	Enhancers	Brain Hippocampus Middle	brain
43	chr1:174808200-174809600	Enhancers	HSMMtube	muscle
44	chr1:174808200-174809800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:174808200-174812200	Enhancers	HSMM	muscle
46	chr1:174808400-174808800	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:174808400-174809000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:174808400-174809000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:174808400-174809000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr1:174809000-174811000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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