Variant report

Variant	esv3321004
Chromosome Location	chr1:192674954-192683702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 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	chr1:192677090-192677431	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:192677165-192677423	A549	lung:	n/a	n/a
4	CTCF	chr1:192682967-192683045	ProgFib	skin:	n/a	n/a
5	CTCF	chr1:192683580-192683730	GM12867	blood:	n/a	n/a
6	EP300	chr1:192678654-192678990	HepG2	liver:	n/a	n/a
7	EP300	chr1:192678695-192679048	SK-N-SH_RA	brain:	n/a	n/a
8	FOXA1	chr1:192676980-192677522	HepG2	liver:	n/a	chr1:192677375-192677387 chr1:192677379-192677391
9	FOXA1	chr1:192677001-192677594	HepG2	liver:	n/a	chr1:192677375-192677387 chr1:192677379-192677391
10	FOXA2	chr1:192677116-192677374	HepG2	liver:	n/a	n/a
11	GATA3	chr1:192678806-192679428	SK-N-SH	brain:	n/a	chr1:192679352-192679359
12	GATA3	chr1:192678716-192679513	SK-N-SH	brain:	n/a	chr1:192679352-192679359
13	JUND	chr1:192678830-192679046	HepG2	liver:	n/a	chr1:192679018-192679027
14	MAX	chr1:192680874-192680996	NB4	blood:	n/a	n/a
15	MEF2A	chr1:192678749-192679284	SK-N-SH	brain:	n/a	chr1:192679019-192679027 chr1:192679079-192679096 chr1:192679080-192679095
16	POLR2A	chr1:192678701-192678794	ProgFib	skin:	n/a	n/a
17	POLR2A	chr1:192677850-192677918	ProgFib	skin:	n/a	n/a
18	POLR2A	chr1:192682981-192683146	A549	lung:	n/a	n/a
19	RAD21	chr1:192678693-192678978	SK-N-SH_RA	brain:	n/a	n/a
20	SPI1	chr1:192675324-192675767	HL-60	blood:	n/a	n/a
21	TEAD4	chr1:192678705-192679169	HepG2	liver:	n/a	n/a
22	USF1	chr1:192680797-192681019	SK-N-SH_RA	brain:	n/a	chr1:192680930-192680941
23	USF1	chr1:192680805-192681036	H1-hESC	embryonic stem cell:	n/a	chr1:192680930-192680941
24	USF1	chr1:192680761-192681106	H1-hESC	embryonic stem cell:	n/a	chr1:192680930-192680941
25	USF1	chr1:192680804-192681064	SK-N-SH_RA	brain:	n/a	chr1:192680930-192680941
26	USF1	chr1:192680834-192681007	HepG2	liver:	n/a	chr1:192680930-192680941
27	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	K562	blood:	n/a
2	chr1:192678773-192678823	PFSK-1	brain:	n/a
3	chr1:192678773-192678823	HL-60	blood:	n/a
4	chr1:192678773-192678823	HAEpiC	amniotic membrane:	n/a
5	chr1:192678773-192678823	SAEC	small airway:	n/a
6	chr1:192678773-192678823	GM19239	blood:	n/a
7	chr1:192678773-192678823	Jurkat	blood:	n/a
8	chr1:192678773-192678823	H1-hESC	embryonic stem cell:	embryo
9	chr1:192678773-192678823	NH-A	brain:	n/a
10	chr1:192678773-192678823	BE2_C	brain:	n/a
11	chr1:192678773-192678823	HIPEpiC	eye:	n/a
12	chr1:192678773-192678823	ProgFib	skin:	n/a
13	chr1:192678773-192678823	IMR90	lung:	fetal
14	chr1:192678773-192678823	HRPEpiC	eye:	n/a
15	chr1:192678773-192678823	AG04449	skin:	fetal
16	chr1:192678773-192678823	BJ	skin:	n/a
17	chr1:192678773-192678823	GM12892	blood:	n/a
18	chr1:192678773-192678823	Hepatocyte	liver:	n/a
19	chr1:192678773-192678823	AG09319	gingival:	n/a
20	chr1:192678773-192678823	HUVEC	blood vessel:	n/a
21	chr1:192678773-192678823	AG09309	skin:	n/a
22	chr1:192678773-192678823	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:192678773-192678823	NHDF-neo	bronchial:	n/a
24	chr1:192678773-192678823	AoSMC	blood vessel:	n/a
25	chr1:192678773-192678823	HCM	heart:	n/a
26	chr1:192678773-192678823	T-47D	breast:	n/a
27	chr1:192678773-192678823	HCPEpiC	choroid plexus:	n/a
28	chr1:192678773-192678823	Hela-S3	cervix:	n/a
29	chr1:192678773-192678823	HCT-116	colon:	n/a
30	chr1:192678773-192678823	MCF-7	breast:	n/a
31	chr1:192678773-192678823	HCF	heart:	n/a
32	chr1:192678773-192678823	GM12878	blood:	n/a
33	chr1:192678773-192678823	SKMC	muscle:	n/a
34	chr1:192678773-192678823	LNCaP	prostate:	n/a
35	chr1:192678773-192678823	HRE	kidney:	n/a
36	chr1:192678773-192678823	HepG2	liver:	n/a
37	chr1:192678773-192678823	HEK293	kidney:	embryo
38	chr1:192678773-192678823	GM06990	blood:	n/a
39	chr1:192678773-192678823	MCF10A-Er-Src	breast:	n/a
40	chr1:192678773-192678823	SK-N-SH_RA	brain:	n/a
41	chr1:192678773-192678823	A549	lung:	n/a
42	chr1:192678773-192678823	GM12891	blood:	n/a
43	chr1:192678773-192678823	ECC-1	luminal epithelium:	n/a
44	chr1:192678773-192678823	AG10803	skin:	n/a
45	chr1:192678773-192678823	CMK	blood:	n/a
46	chr1:192678773-192678823	PANC-1	pancreas:	n/a
47	chr1:192678773-192678823	NHBE	bronchial:	n/a
48	chr1:192678773-192678823	HEEpiC	esophagus:	n/a
49	chr1:192678773-192678823	PrEC	prostate:	n/a
50	chr1:192678773-192678823	ovcar-3	ovarian:	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: 350 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:350 , 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	rs78777715	chr1:192674969-192674970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186034072	chr1:192674995-192674996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576907981	chr1:192675027-192675028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6704139	chr1:192675029-192675030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545633073	chr1:192675032-192675033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77896419	chr1:192675042-192675043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531472759	chr1:192675044-192675045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145598575	chr1:192675048-192675049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548526377	chr1:192675051-192675052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561648535	chr1:192675053-192675054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527320827	chr1:192675055-192675056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547508424	chr1:192675056-192675057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71639166	chr1:192675057-192675058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183486233	chr1:192675059-192675060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539022833	chr1:192675071-192675072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187229773	chr1:192675075-192675076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140036332	chr1:192675082-192675083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557774391	chr1:192675083-192675084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576053091	chr1:192675086-192675087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386369148	chr1:192675090-192675091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58594045	chr1:192675101-192675102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12093483	chr1:192675102-192675103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58868316	chr1:192675107-192675108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147392186	chr1:192675108-192675109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145418382	chr1:192675111-192675112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139671820	chr1:192675115-192675116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75960281	chr1:192675120-192675121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552779308	chr1:192675122-192675123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71569079	chr1:192675128-192675129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561847701	chr1:192675135-192675136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376671971	chr1:192675137-192675138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146033899	chr1:192675139-192675140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71639167	chr1:192675142-192675143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549713752	chr1:192675161-192675162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142042799	chr1:192675167-192675168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569447285	chr1:192675216-192675217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538127280	chr1:192675247-192675248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182387820	chr1:192675283-192675284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74130446	chr1:192675313-192675314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147693919	chr1:192675373-192675374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186723895	chr1:192675393-192675394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115816315	chr1:192675467-192675468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577228415	chr1:192675494-192675495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369056660	chr1:192675541-192675542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558927482	chr1:192675550-192675551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556057907	chr1:192675559-192675560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565870787	chr1:192675591-192675592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572356688	chr1:192675608-192675609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142319769	chr1:192675633-192675634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562005096	chr1:192675639-192675640	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:81 , 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	chr1:192673600-192675200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:192674400-192677200	Weak transcription	A549	lung
16	chr1:192674800-192676600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:192675200-192676800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:192675600-192676000	Enhancers	Colon Smooth Muscle	Colon
19	chr1:192675600-192677600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:192675800-192676000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:192675800-192676000	Enhancers	Primary B cells from cord blood	blood
22	chr1:192676000-192676400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:192676000-192676600	Weak transcription	Primary B cells from cord blood	blood
24	chr1:192676000-192677200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:192676200-192676600	Weak transcription	HepG2	liver
26	chr1:192676400-192677400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:192676600-192677000	Enhancers	Stomach Mucosa	stomach
28	chr1:192676600-192677200	Enhancers	Primary B cells from cord blood	blood
29	chr1:192676600-192677600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:192676600-192679400	Enhancers	HepG2	liver
31	chr1:192676800-192677200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr1:192676800-192677600	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:192677000-192677400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:192677000-192682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:192677200-192677600	Enhancers	Colon Smooth Muscle	Colon
36	chr1:192677200-192677600	Enhancers	NHEK	skin
37	chr1:192677200-192679000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:192677200-192680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:192677400-192677600	Enhancers	A549	lung
40	chr1:192677400-192680000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:192677400-192683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:192677600-192678600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:192677600-192678800	Weak transcription	NHEK	skin
44	chr1:192677800-192678000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:192677800-192682800	Weak transcription	HMEC	breast
46	chr1:192678000-192678400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:192678200-192680200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:192678200-192681000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:192678400-192679000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:192678400-192679400	Enhancers	HSMMtube	muscle

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