Variant report

Variant	nsv523794
Chromosome Location	chr1:186316488-186327536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:186322889-186323222	HepG2	liver:	n/a	chr1:186323045-186323056
2	CEBPB	chr1:186322934-186323170	A549	lung:	n/a	chr1:186323045-186323056
3	CTCF	chr1:186327400-186327550	MCF-7	breast:	n/a	n/a
4	CUX1	chr1:186321595-186321603	GM12878	blood:	n/a	n/a
5	FAM48A	chr1:186322877-186322994	GM12878	blood:	n/a	n/a
6	FOXA1	chr1:186321564-186321853	T-47D	breast:	n/a	n/a
7	GATA2	chr1:186317226-186317861	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr1:186317334-186317910	MCF-7	breast:	n/a	n/a
9	GATA3	chr1:186317321-186317942	MCF-7	breast:	n/a	n/a
10	GATA3	chr1:186317437-186317753	T-47D	breast:	n/a	n/a
11	GATA3	chr1:186317393-186317908	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr1:186317462-186317841	T-47D	breast:	n/a	n/a
13	GATA3	chr1:186317484-186317738	MCF-7	breast:	n/a	n/a
14	GATA3	chr1:186317278-186317858	MCF-7	breast:	n/a	n/a
15	GATA3	chr1:186318292-186318360	SH-SY5Y	brain:	n/a	n/a
16	HNF4A	chr1:186317540-186317825	HepG2	liver:	n/a	chr1:186317679-186317694
17	HNF4A	chr1:186317545-186317828	HepG2	liver:	n/a	chr1:186317679-186317694
18	HNF4G	chr1:186317514-186317772	HepG2	liver:	n/a	chr1:186317614-186317629
19	KAP1	chr1:186327467-186328052	K562	blood:	n/a	n/a
20	MAFF	chr1:186325208-186325443	HepG2	liver:	n/a	n/a
21	MAFK	chr1:186325194-186325516	HepG2	liver:	n/a	n/a
22	MAFK	chr1:186325224-186325463	HepG2	liver:	n/a	n/a
23	MAFK	chr1:186325249-186325478	IMR90	lung:	n/a	n/a
24	MYC	chr1:186326246-186326267	MCF-7	breast:	n/a	n/a
25	MYC	chr1:186326278-186326283	MCF-7	breast:	n/a	n/a
26	NR2F2	chr1:186317491-186317871	MCF-7	breast:	n/a	n/a
27	NR2F2	chr1:186317441-186317748	K562	blood:	n/a	n/a
28	POLR2A	chr1:186317646-186317657	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:186325465-186325472	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:186326370-186326492	MCF-7	breast:	n/a	n/a
31	POLR2A	chr1:186325582-186325640	MCF-7	breast:	n/a	n/a
32	POLR2A	chr1:186314481-186317411	K562	blood:	n/a	n/a
33	POLR2A	chr1:186322108-186322189	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr1:186317585-186317941	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:186324063-186324293	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:186325606-186325634	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:186317554-186317801	K562	blood:	n/a	n/a
38	POLR2A	chr1:186317494-186317606	MCF-7	breast:	n/a	n/a
39	POLR2A	chr1:186325483-186325579	MCF-7	breast:	n/a	n/a
40	SP1	chr1:186317385-186317730	HepG2	liver:	n/a	n/a
41	STAT3	chr1:186325998-186326164	MCF10A-Er-Src	breast:	n/a	chr1:186326130-186326138
42	TCF7L2	chr1:186317403-186317763	MCF-7	breast:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186316560..186318174-chr1:186331553..186333723,2	MCF-7	breast:
2	chr1:186288812..186291873-chr1:186327325..186329603,3	MCF-7	breast:
3	chr1:186310668..186313806-chr1:186320186..186322730,3	K562	blood:
4	chr1:186314204..186316218-chr1:186316982..186319288,3	K562	blood:
5	chr1:186303335..186305022-chr1:186315290..186317510,2	MCF-7	breast:
6	chr1:186291622..186294761-chr1:186327186..186330019,3	K562	blood:
7	chr1:186321198..186323340-chr1:186324559..186327475,3	K562	blood:
8	chr1:186314681..186317942-chr1:186341100..186345246,4	K562	blood:
9	chr1:186299469..186302075-chr1:186319795..186321685,2	MCF-7	breast:
10	chr1:186304225..186306669-chr1:186316291..186318175,2	K562	blood:
11	chr1:186321198..186323340-chr1:186324559..186327475,3	K562	blood:
12	chr1:186310693..186313504-chr1:186318260..186321043,2	MCF-7	breast:
13	chr1:186315129..186317112-chr1:186323166..186325594,2	K562	blood:
14	chr1:186315129..186317112-chr1:186323166..186325594,2	K562	blood:
15	chr1:186321243..186327284-chr1:186327473..186331831,10	K562	blood:
16	chr1:186292652..186294761-chr1:186327186..186329585,2	K562	blood:
17	chr1:186311472..186313994-chr1:186318178..186320741,3	K562	blood:
18	chr1:186312933..186317180-chr1:186341100..186346147,6	K562	blood:
19	chr1:186318410..186320911-chr1:186337903..186340668,2	K562	blood:
20	chr1:186299950..186302172-chr1:186316943..186319555,2	K562	blood:

No data

Variant related genes	Relation type
TPR	TF binding region
ENSG00000157181	chromatin interactions
ENSG00000047410	chromatin interactions

Extended variants
information (count: 475 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3753565	chr1:186316488-186316489	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371004800	chr1:186316490-186316491	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs199587162	chr1:186316491-186316492	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs201054576	chr1:186316510-186316511	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs377746003	chr1:186316512-186316513	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371184513	chr1:186316526-186316527	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376299114	chr1:186316555-186316556	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs199867059	chr1:186316561-186316562	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs562134765	chr1:186316624-186316625	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs76318562	chr1:186316630-186316631	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs3753564	chr1:186316656-186316657	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550872074	chr1:186316662-186316663	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs547655694	chr1:186316666-186316667	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs569255361	chr1:186316722-186316723	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs539482909	chr1:186316723-186316724	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs12739797	chr1:186316732-186316733	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs75165456	chr1:186316734-186316735	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs193141618	chr1:186316751-186316752	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs3124809	chr1:186316794-186316795	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573705763	chr1:186316929-186316930	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs533139058	chr1:186316952-186316953	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs576661583	chr1:186316976-186316977	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs185531577	chr1:186316977-186316978	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs373034148	chr1:186316993-186316994	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs61181518	chr1:186317004-186317005	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537788557	chr1:186317023-186317024	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs545052190	chr1:186317029-186317030	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs563135132	chr1:186317035-186317036	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs138080777	chr1:186317069-186317070	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs542319045	chr1:186317071-186317072	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs562311563	chr1:186317131-186317132	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs529410962	chr1:186317151-186317152	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs547567682	chr1:186317159-186317160	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs142155868	chr1:186317180-186317181	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs374282697	chr1:186317181-186317182	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs533442879	chr1:186317187-186317188	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs551790929	chr1:186317246-186317247	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs569906733	chr1:186317282-186317283	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs146018167	chr1:186317302-186317303	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549178029	chr1:186317316-186317317	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs573569094	chr1:186317373-186317374	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs558637935	chr1:186317393-186317394	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs567486462	chr1:186317415-186317416	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs138929243	chr1:186317430-186317431	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs370887978	chr1:186317463-186317464	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs149334930	chr1:186317504-186317505	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs144421171	chr1:186317505-186317506	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs147982519	chr1:186317516-186317517	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs141668326	chr1:186317517-186317518	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs542721770	chr1:186317578-186317579	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
5	chr1:186279600-186317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:186280000-186317600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:186280000-186340400	Strong transcription	Dnd41	blood
10	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:186280000-186342400	Strong transcription	Osteobl	bone
14	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:186280000-186342600	Strong transcription	HSMM	muscle
16	chr1:186280200-186316800	Strong transcription	Placenta	Placenta
17	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:186280400-186317600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:186280400-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:186281000-186341800	Strong transcription	Liver	Liver
23	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:186281200-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:186281200-186317800	Strong transcription	HUVEC	blood vessel
26	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:186281200-186341400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr1:186281200-186341800	Strong transcription	Adipose Nuclei	Adipose
29	chr1:186281200-186342200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:186281200-186342200	Strong transcription	NH-A	brain
31	chr1:186281400-186341600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:186281400-186342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:186281400-186342000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:186281400-186342000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:186281400-186342200	Strong transcription	Hela-S3	cervix
36	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:186281800-186335600	Strong transcription	HMEC	breast
39	chr1:186281800-186342200	Strong transcription	K562	blood
40	chr1:186282400-186319600	Weak transcription	Stomach Mucosa	stomach
41	chr1:186283400-186341000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:186283800-186327800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:186285200-186342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:186287000-186343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:186288000-186319000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:186290000-186342000	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:186293200-186340000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:186293800-186340400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:186294400-186341000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:186294800-186338800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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