Variant report

Variant	esv18975
Chromosome Location	chr1:192675218-192683546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:192677124-192677459	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:192677165-192677423	A549	lung:	n/a	n/a
3	CEBPB	chr1:192677090-192677431	HepG2	liver:	n/a	n/a
4	CTCF	chr1:192682967-192683045	ProgFib	skin:	n/a	n/a
5	EP300	chr1:192678654-192678990	HepG2	liver:	n/a	n/a
6	EP300	chr1:192678695-192679048	SK-N-SH_RA	brain:	n/a	n/a
7	FOXA1	chr1:192677001-192677594	HepG2	liver:	n/a	chr1:192677375-192677387 chr1:192677379-192677391
8	FOXA1	chr1:192676980-192677522	HepG2	liver:	n/a	chr1:192677375-192677387 chr1:192677379-192677391
9	FOXA2	chr1:192677116-192677374	HepG2	liver:	n/a	n/a
10	GATA3	chr1:192678716-192679513	SK-N-SH	brain:	n/a	chr1:192679352-192679359
11	GATA3	chr1:192678806-192679428	SK-N-SH	brain:	n/a	chr1:192679352-192679359
12	JUND	chr1:192678830-192679046	HepG2	liver:	n/a	chr1:192679018-192679027
13	MAX	chr1:192680874-192680996	NB4	blood:	n/a	n/a
14	MEF2A	chr1:192678749-192679284	SK-N-SH	brain:	n/a	chr1:192679019-192679027 chr1:192679079-192679096 chr1:192679080-192679095
15	POLR2A	chr1:192677850-192677918	ProgFib	skin:	n/a	n/a
16	POLR2A	chr1:192678701-192678794	ProgFib	skin:	n/a	n/a
17	POLR2A	chr1:192682981-192683146	A549	lung:	n/a	n/a
18	RAD21	chr1:192678693-192678978	SK-N-SH_RA	brain:	n/a	n/a
19	SPI1	chr1:192675324-192675767	HL-60	blood:	n/a	n/a
20	TEAD4	chr1:192678705-192679169	HepG2	liver:	n/a	n/a
21	USF1	chr1:192680834-192681007	HepG2	liver:	n/a	chr1:192680930-192680941
22	USF1	chr1:192680805-192681036	H1-hESC	embryonic stem cell:	n/a	chr1:192680930-192680941
23	USF1	chr1:192680804-192681064	SK-N-SH_RA	brain:	n/a	chr1:192680930-192680941
24	USF1	chr1:192680797-192681019	SK-N-SH_RA	brain:	n/a	chr1:192680930-192680941
25	USF1	chr1:192680761-192681106	H1-hESC	embryonic stem cell:	n/a	chr1:192680930-192680941
26	USF2	chr1:192680844-192681044	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:192678773-192678823	U87	brain:	n/a
2	chr1:192678773-192678823	HAEpiC	amniotic membrane:	n/a
3	chr1:192678773-192678823	HMEC	breast:	n/a
4	chr1:192678773-192678823	H1-hESC	embryonic stem cell:	embryo
5	chr1:192678773-192678823	PANC-1	pancreas:	n/a
6	chr1:192678773-192678823	HL-60	blood:	n/a
7	chr1:192678773-192678823	GM12891	blood:	n/a
8	chr1:192678773-192678823	IMR90	lung:	fetal
9	chr1:192678773-192678823	HRE	kidney:	n/a
10	chr1:192678773-192678823	AG04450	lung:	fetal
11	chr1:192678773-192678823	AG04449	skin:	fetal
12	chr1:192678773-192678823	HepG2	liver:	n/a
13	chr1:192678773-192678823	LNCaP	prostate:	n/a
14	chr1:192678773-192678823	AG09319	gingival:	n/a
15	chr1:192678773-192678823	NHBE	bronchial:	n/a
16	chr1:192678773-192678823	SAEC	small airway:	n/a
17	chr1:192678773-192678823	MCF-7	breast:	n/a
18	chr1:192678773-192678823	AoSMC	blood vessel:	n/a
19	chr1:192678773-192678823	PFSK-1	brain:	n/a
20	chr1:192678773-192678823	HIPEpiC	eye:	n/a
21	chr1:192678773-192678823	HCM	heart:	n/a
22	chr1:192678773-192678823	NT2-D1	testis:	n/a
23	chr1:192678773-192678823	NB4	blood:	n/a
24	chr1:192678773-192678823	Jurkat	blood:	n/a
25	chr1:192678773-192678823	BJ	skin:	n/a
26	chr1:192678773-192678823	SK-N-MC	brain:	n/a
27	chr1:192678773-192678823	Caco-2	colon:	n/a
28	chr1:192678773-192678823	HCF	heart:	n/a
29	chr1:192678773-192678823	ECC-1	luminal epithelium:	n/a
30	chr1:192678773-192678823	NHDF-neo	bronchial:	n/a
31	chr1:192678773-192678823	GM06990	blood:	n/a
32	chr1:192678773-192678823	HRPEpiC	eye:	n/a
33	chr1:192678773-192678823	T-47D	breast:	n/a
34	chr1:192678773-192678823	PrEC	prostate:	n/a
35	chr1:192678773-192678823	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:192678773-192678823	HRCEpiC	kidney:	n/a
37	chr1:192678773-192678823	Hela-S3	cervix:	n/a
38	chr1:192678773-192678823	HUVEC	blood vessel:	n/a
39	chr1:192678773-192678823	CMK	blood:	n/a
40	chr1:192678773-192678823	SKMC	muscle:	n/a
41	chr1:192678773-192678823	MCF10A-Er-Src	breast:	n/a
42	chr1:192678773-192678823	SK-N-SH_RA	brain:	n/a
43	chr1:192678773-192678823	RPTEC	kidney:	n/a
44	chr1:192678773-192678823	K562	blood:	n/a
45	chr1:192678773-192678823	HNPCEpiC	eye:	n/a
46	chr1:192678773-192678823	HEEpiC	esophagus:	n/a
47	chr1:192678773-192678823	ProgFib	skin:	n/a
48	chr1:192678773-192678823	ovcar-3	ovarian:	n/a
49	chr1:192678773-192678823	BE2_C	brain:	n/a
50	chr1:192678773-192678823	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192670911..192673687-chr1:192675700..192678097,2	K562	blood:

No data

Variant related genes	Relation type
MIR4426	TF binding region
MIR4426	CpG island

Extended variants
information (count: 306 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538127280	chr1:192675247-192675248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182387820	chr1:192675283-192675284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74130446	chr1:192675313-192675314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147693919	chr1:192675373-192675374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186723895	chr1:192675393-192675394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115816315	chr1:192675467-192675468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577228415	chr1:192675494-192675495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369056660	chr1:192675541-192675542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558927482	chr1:192675550-192675551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556057907	chr1:192675559-192675560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565870787	chr1:192675591-192675592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572356688	chr1:192675608-192675609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142319769	chr1:192675633-192675634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562005096	chr1:192675639-192675640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6681333	chr1:192675649-192675650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6656146	chr1:192675664-192675665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12724227	chr1:192675680-192675681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12743947	chr1:192675711-192675712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191909743	chr1:192675715-192675716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182666163	chr1:192675733-192675734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531819750	chr1:192675743-192675744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12748165	chr1:192675807-192675808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12723230	chr1:192675812-192675813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568460979	chr1:192675853-192675854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534231061	chr1:192675878-192675879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188076022	chr1:192675913-192675914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117245163	chr1:192675914-192675915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71111421	chr1:192675935-192675936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201079383	chr1:192675936-192675937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12744366	chr1:192675939-192675940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368160046	chr1:192675940-192675941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559347300	chr1:192675950-192675951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539528654	chr1:192675953-192675954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533302371	chr1:192675960-192675961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71522456	chr1:192675993-192675994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150378347	chr1:192675995-192675996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530327547	chr1:192676137-192676138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576150706	chr1:192676159-192676160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146462055	chr1:192676208-192676209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12752676	chr1:192676209-192676210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565286413	chr1:192676265-192676266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555606335	chr1:192676283-192676284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572326866	chr1:192676294-192676295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541350700	chr1:192676307-192676308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192920506	chr1:192676323-192676324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532969839	chr1:192676327-192676328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543133875	chr1:192676338-192676339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185146766	chr1:192676360-192676361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190473411	chr1:192676373-192676374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548327655	chr1:192676382-192676383	Weak transcription Enhancers	n/a	n/a	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
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
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
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
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192670200-192676200	Enhancers	HepG2	liver
2	chr1:192671400-192677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:192671400-192677200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:192671600-192676600	Weak transcription	Stomach Mucosa	stomach
5	chr1:192671600-192676800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:192671800-192677200	Weak transcription	NHEK	skin
7	chr1:192671800-192678400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:192672000-192675600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:192672200-192675800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:192672400-192675600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:192672400-192678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:192672800-192677800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:192673200-192678600	Weak transcription	NH-A	brain
14	chr1:192674400-192677200	Weak transcription	A549	lung
15	chr1:192674800-192676600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:192675200-192676800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:192675600-192676000	Enhancers	Colon Smooth Muscle	Colon
18	chr1:192675600-192677600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:192675800-192676000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:192675800-192676000	Enhancers	Primary B cells from cord blood	blood
21	chr1:192676000-192676400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:192676000-192676600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:192676000-192677200	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:192676200-192676600	Weak transcription	HepG2	liver
25	chr1:192676400-192677400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:192676600-192677000	Enhancers	Stomach Mucosa	stomach
27	chr1:192676600-192677200	Enhancers	Primary B cells from cord blood	blood
28	chr1:192676600-192677600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:192676600-192679400	Enhancers	HepG2	liver
30	chr1:192676800-192677200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr1:192676800-192677600	Enhancers	Rectal Smooth Muscle	rectum
32	chr1:192677000-192677400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:192677000-192682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:192677200-192677600	Enhancers	Colon Smooth Muscle	Colon
35	chr1:192677200-192677600	Enhancers	NHEK	skin
36	chr1:192677200-192679000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr1:192677200-192680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:192677400-192677600	Enhancers	A549	lung
39	chr1:192677400-192680000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:192677400-192683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:192677600-192678600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:192677600-192678800	Weak transcription	NHEK	skin
43	chr1:192677800-192678000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:192677800-192682800	Weak transcription	HMEC	breast
45	chr1:192678000-192678400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:192678200-192680200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:192678200-192681000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:192678400-192679000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:192678400-192679400	Enhancers	HSMMtube	muscle
50	chr1:192678400-192679600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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