Variant report

Variant	nsv872557
Chromosome Location	chr1:174800121-174819336
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	chr1:174818480-174818752	K562	blood:	n/a	n/a
2	ARID3A	chr1:174810183-174810205	K562	blood:	n/a	n/a
3	ATF2	chr1:174810826-174811243	GM12878	blood:	n/a	n/a
4	ATF2	chr1:174810860-174811256	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	CTCF	chr1:174801793-174801840	MCF-7	breast:	n/a	n/a
11	CUX1	chr1:174810924-174811133	GM12878	blood:	n/a	n/a
12	E2F4	chr1:174806839-174806876	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr1:174808750-174808927	GM12878	blood:	n/a	n/a
14	EP300	chr1:174810913-174811184	GM12878	blood:	n/a	chr1:174810995-174811009
15	EP300	chr1:174818378-174818634	GM12878	blood:	n/a	n/a
16	EP300	chr1:174818471-174818771	K562	blood:	n/a	n/a
17	FOS	chr1:174818362-174818721	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:174809551-174809802	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:174808091-174808285	MCF10A-Er-Src	breast:	n/a	chr1:174808097-174808105
20	FOS	chr1:174805864-174806106	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:174805889-174806067	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:174808096-174808306	MCF10A-Er-Src	breast:	n/a	chr1:174808097-174808105
23	FOS	chr1:174818464-174818640	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:174809596-174809796	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:174809584-174809833	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:174818402-174818707	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:174818407-174818767	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:174809557-174809790	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:174808015-174808227	MCF10A-Er-Src	breast:	n/a	chr1:174808097-174808105
30	FOS	chr1:174805834-174806138	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA1	chr1:174817830-174817961	HepG2	liver:	n/a	n/a
32	FOXA2	chr1:174817668-174818054	A549	lung:	n/a	n/a
33	FOXA2	chr1:174817575-174818284	A549	lung:	n/a	n/a
34	FOXM1	chr1:174810777-174811330	GM12878	blood:	n/a	n/a
35	FOXM1	chr1:174810864-174811355	GM12878	blood:	n/a	n/a
36	GATA3	chr1:174809115-174809266	SH-SY5Y	brain:	n/a	n/a
37	HEY1	chr1:174818271-174818539	K562	blood:	n/a	n/a
38	HEY1	chr1:174817867-174818029	K562	blood:	n/a	n/a
39	HEY1	chr1:174818283-174818495	K562	blood:	n/a	n/a
40	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
41	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
42	IRF1	chr1:174809123-174809323	K562	blood:	n/a	n/a
43	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
44	JUN	chr1:174818528-174818587	K562	blood:	n/a	n/a
45	JUND	chr1:174818370-174818676	K562	blood:	n/a	n/a
46	JUND	chr1:174808252-174808285	HepG2	liver:	n/a	n/a
47	MAFF	chr1:174804603-174804885	HepG2	liver:	n/a	chr1:174804738-174804756
48	MAFF	chr1:174818449-174818748	K562	blood:	n/a	n/a
49	MAFK	chr1:174804598-174804912	IMR90	lung:	n/a	chr1:174804740-174804755
50	MAFK	chr1:174818450-174818710	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174798481..174800550-chr1:174807771..174810609,2	MCF-7	breast:
2	chr1:174798481..174800550-chr1:174807771..174810609,2	MCF-7	breast:
3	chr1:174803637..174805618-chr1:174962090..174964287,2	K562	blood:
4	chr1:174801846..174803721-chr1:174966290..174968763,2	K562	blood:
5	chr1:174802465..174804337-chr1:174807941..174810779,2	MCF-7	breast:
6	chr1:174768938..174770778-chr1:174801849..174804479,2	K562	blood:
7	chr1:174804519..174806652-chr1:174968482..174970506,2	MCF-7	breast:
8	chr1:174805015..174806960-chr1:174807361..174809461,2	K562	blood:
9	chr1:174132422..174134111-chr1:174800626..174802567,2	K562	blood:
10	chr1:174818265..174820720-chr1:174969337..174970845,2	K562	blood:
11	chr1:174802465..174804337-chr1:174807941..174810779,2	MCF-7	breast:
12	chr1:174810056..174811969-chr1:174966210..174968359,2	K562	blood:
13	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: 546 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4480415	chr1:174800121-174800122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112076065	chr1:174800133-174800134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76077529	chr1:174800172-174800173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35433533	chr1:174800243-174800244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78937615	chr1:174800297-174800298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4442419	chr1:174800400-174800401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs190135310	chr1:174800414-174800415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568398118	chr1:174800459-174800460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537097362	chr1:174800583-174800584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551247627	chr1:174800587-174800588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376138256	chr1:174800616-174800617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368264550	chr1:174800656-174800657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181396634	chr1:174800685-174800686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574057836	chr1:174800743-174800744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566737378	chr1:174800807-174800808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201857412	chr1:174800865-174800866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1540207	chr1:174800872-174800873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs143984820	chr1:174800918-174800919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56101809	chr1:174800924-174800925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574368925	chr1:174800973-174800974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543088225	chr1:174800976-174800977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557275618	chr1:174801064-174801065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577236620	chr1:174801102-174801103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546137158	chr1:174801194-174801195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200408891	chr1:174801206-174801207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559550130	chr1:174801237-174801238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146434626	chr1:174801329-174801330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186033273	chr1:174801356-174801357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551355922	chr1:174801360-174801361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561163344	chr1:174801367-174801368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190946585	chr1:174801380-174801381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550728211	chr1:174801386-174801387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149222282	chr1:174801439-174801440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530060631	chr1:174801445-174801446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374439532	chr1:174801456-174801457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571519469	chr1:174801490-174801491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570534927	chr1:174801503-174801504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533698607	chr1:174801556-174801557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547117770	chr1:174801568-174801569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184047954	chr1:174801615-174801616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377093652	chr1:174801633-174801634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2156854	chr1:174801639-174801640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs544742304	chr1:174801653-174801654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs58266314	chr1:174801716-174801717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186984935	chr1:174801721-174801722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552430544	chr1:174801870-174801871	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76450200	chr1:174801915-174801916	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568095525	chr1:174801937-174801938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537027091	chr1:174801976-174801977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140884773	chr1:174802029-174802030	Weak transcription Enhancers	Chromatin interactive region	2 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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
4	chr1:174792600-174801600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
6	chr1:174798400-174810800	Weak transcription	GM12878-XiMat	blood
7	chr1:174800800-174801600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:174801600-174801800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:174801600-174801800	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:174801600-174801800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:174801600-174802200	Enhancers	Brain Angular Gyrus	brain
12	chr1:174801800-174808400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:174802000-174804800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:174802200-174806800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:174803800-174804600	Weak transcription	Brain Anterior Caudate	brain
16	chr1:174804600-174804800	Enhancers	Brain Anterior Caudate	brain
17	chr1:174804800-174805000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:174804800-174805800	Weak transcription	Brain Anterior Caudate	brain
19	chr1:174805000-174805800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:174805600-174806000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:174805600-174806000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:174805600-174806000	Enhancers	Fetal Heart	heart
23	chr1:174805600-174806000	Enhancers	NHEK	skin
24	chr1:174805800-174806000	Enhancers	Brain Anterior Caudate	brain
25	chr1:174805800-174806000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:174805800-174806600	Enhancers	HSMM	muscle
27	chr1:174805800-174806800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:174805800-174807400	Enhancers	Brain Substantia Nigra	brain
29	chr1:174806000-174806400	Weak transcription	Brain Anterior Caudate	brain
30	chr1:174806000-174806400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:174806400-174807000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:174806400-174807600	Enhancers	Brain Anterior Caudate	brain
33	chr1:174806600-174806800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:174806600-174807000	Enhancers	HSMMtube	muscle
35	chr1:174806600-174808200	Weak transcription	HSMM	muscle
36	chr1:174806800-174807200	Enhancers	Brain Angular Gyrus	brain
37	chr1:174806800-174807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:174806800-174807800	Enhancers	Brain Hippocampus Middle	brain
39	chr1:174807000-174808200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:174807000-174808200	Weak transcription	HSMMtube	muscle
41	chr1:174807000-174808400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:174807400-174807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:174807400-174808200	Weak transcription	Brain Substantia Nigra	brain
44	chr1:174807600-174808400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:174807800-174808200	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:174808000-174808600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:174808000-174808800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:174808200-174808600	Enhancers	Brain Substantia Nigra	brain
49	chr1:174808200-174809400	Enhancers	Brain Hippocampus Middle	brain
50	chr1:174808200-174809600	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links