Variant report

Variant	esv2762345
Chromosome Location	chr3:110614389-110668843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:359)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:110658945-110659371	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:110665667-110666054	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:110657564-110657955	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:110646872-110647358	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:110665336-110665583	IMR90	lung:	n/a	chr3:110665443-110665454
6	CEBPB	chr3:110657677-110657790	HepG2	liver:	n/a	n/a
7	CEBPB	chr3:110665301-110665621	HepG2	liver:	n/a	chr3:110665443-110665454
8	CEBPB	chr3:110661173-110661469	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr3:110657637-110657897	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:110663732-110663973	HepG2	liver:	n/a	n/a
11	CEBPB	chr3:110619486-110619840	IMR90	lung:	n/a	n/a
12	CEBPB	chr3:110658954-110659274	HepG2	liver:	n/a	n/a
13	CHD2	chr3:110662276-110662279	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr3:110616033-110616050	GM12878	blood:	n/a	n/a
15	CTCF	chr3:110624400-110624550	MCF-7	breast:	n/a	n/a
16	CTCF	chr3:110663340-110663490	HepG2	liver:	n/a	n/a
17	CTCF	chr3:110663759-110663906	HepG2	liver:	n/a	n/a
18	CTCF	chr3:110663648-110663949	HepG2	liver:	n/a	n/a
19	CTCF	chr3:110627460-110627610	GM12873	blood:	n/a	n/a
20	CTCF	chr3:110663728-110663880	HepG2	liver:	n/a	n/a
21	CTCF	chr3:110636106-110636168	MCF-7	breast:	n/a	n/a
22	E2F4	chr3:110660129-110660212	MCF10A-Er-Src	breast:	n/a	n/a
23	EGR1	chr3:110657575-110658009	MCF-7	breast:	n/a	n/a
24	EP300	chr3:110646854-110647183	HepG2	liver:	n/a	n/a
25	EP300	chr3:110665609-110666088	HepG2	liver:	n/a	n/a
26	EP300	chr3:110651067-110652026	SK-N-SH	brain:	n/a	n/a
27	EP300	chr3:110651339-110651673	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr3:110627228-110627810	SK-N-SH	brain:	n/a	n/a
29	EP300	chr3:110646772-110647276	HepG2	liver:	n/a	n/a
30	EP300	chr3:110651175-110651887	SK-N-SH	brain:	n/a	n/a
31	EP300	chr3:110665699-110665962	HepG2	liver:	n/a	n/a
32	EP300	chr3:110658841-110659394	HepG2	liver:	n/a	chr3:110659083-110659093
33	EP300	chr3:110658802-110659313	HepG2	liver:	n/a	chr3:110658819-110658833 chr3:110659083-110659093
34	EP300	chr3:110651315-110651723	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr3:110657535-110657961	HepG2	liver:	n/a	chr3:110657826-110657834 chr3:110657543-110657557
36	FAM48A	chr3:110628837-110628900	GM12878	blood:	n/a	n/a
37	FOS	chr3:110652714-110652848	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr3:110628565-110628572	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr3:110652637-110652948	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr3:110652648-110652837	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:110627928-110628095	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr3:110627862-110627996	MCF10A-Er-Src	breast:	n/a	chr3:110627925-110627933
43	FOSL2	chr3:110658863-110659363	HepG2	liver:	n/a	n/a
44	FOSL2	chr3:110658889-110659320	HepG2	liver:	n/a	n/a
45	FOSL2	chr3:110652521-110653083	SK-N-SH	brain:	n/a	n/a
46	FOSL2	chr3:110652582-110653032	A549	lung:	n/a	n/a
47	FOXA1	chr3:110658774-110659406	HepG2	liver:	n/a	chr3:110659080-110659092
48	FOXA1	chr3:110658805-110659301	HepG2	liver:	n/a	chr3:110659080-110659092
49	FOXA1	chr3:110657465-110657992	HepG2	liver:	n/a	n/a
50	FOXA1	chr3:110658983-110659187	T-47D	breast:	n/a	chr3:110659080-110659092

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:110627980-110628030	MCF-7	breast:	n/a
2	chr3:110638102-110638152	PrEC	prostate:	n/a
3	chr3:110627980-110628030	PrEC	prostate:	n/a
4	chr3:110638102-110638152	CMK	blood:	n/a
5	chr3:110638102-110638152	HCM	heart:	n/a
6	chr3:110627980-110628030	HIPEpiC	eye:	n/a
7	chr3:110638102-110638152	HMEC	breast:	n/a
8	chr3:110638102-110638152	GM12878	blood:	n/a
9	chr3:110627980-110628030	HRE	kidney:	n/a
10	chr3:110627980-110628030	IMR90	lung:	fetal
11	chr3:110638102-110638152	AG09319	gingival:	n/a
12	chr3:110627980-110628030	NT2-D1	testis:	n/a
13	chr3:110627980-110628030	HEEpiC	esophagus:	n/a
14	chr3:110627980-110628030	CMK	blood:	n/a
15	chr3:110627980-110628030	BE2_C	brain:	n/a
16	chr3:110638102-110638152	AG09309	skin:	n/a
17	chr3:110627980-110628030	SK-N-SH	brain:	n/a
18	chr3:110638102-110638152	ProgFib	skin:	n/a
19	chr3:110638102-110638152	HL-60	blood:	n/a
20	chr3:110627980-110628030	MCF10A-Er-Src	breast:	n/a
21	chr3:110638102-110638152	HRE	kidney:	n/a
22	chr3:110638102-110638152	HUVEC	blood vessel:	n/a
23	chr3:110638102-110638152	GM06990	blood:	n/a
24	chr3:110638102-110638152	RPTEC	kidney:	n/a
25	chr3:110627980-110628030	SK-N-MC	brain:	n/a
26	chr3:110627980-110628030	SKMC	muscle:	n/a
27	chr3:110638102-110638152	SK-N-MC	brain:	n/a
28	chr3:110627980-110628030	HUVEC	blood vessel:	n/a
29	chr3:110627980-110628030	GM06990	blood:	n/a
30	chr3:110627980-110628030	AG04449	skin:	fetal
31	chr3:110638102-110638152	AG10803	skin:	n/a
32	chr3:110627980-110628030	RPTEC	kidney:	n/a
33	chr3:110627980-110628030	AG04450	lung:	fetal
34	chr3:110638102-110638152	HPAEpiC	pulmonary alveolar:	n/a
35	chr3:110627980-110628030	HRPEpiC	eye:	n/a
36	chr3:110638102-110638152	PANC-1	pancreas:	n/a
37	chr3:110638102-110638152	IMR90	lung:	fetal
38	chr3:110638102-110638152	ECC-1	luminal epithelium:	n/a
39	chr3:110627980-110628030	HAEpiC	amniotic membrane:	n/a
40	chr3:110627980-110628030	HEK293	kidney:	embryo
41	chr3:110638102-110638152	SK-N-SH	brain:	n/a
42	chr3:110638102-110638152	A549	lung:	n/a
43	chr3:110638102-110638152	NHDF-neo	bronchial:	n/a
44	chr3:110638102-110638152	H1-hESC	embryonic stem cell:	embryo
45	chr3:110638102-110638152	U87	brain:	n/a
46	chr3:110627980-110628030	NHDF-neo	bronchial:	n/a
47	chr3:110638102-110638152	HCPEpiC	choroid plexus:	n/a
48	chr3:110627980-110628030	GM12892	blood:	n/a
49	chr3:110638102-110638152	BJ	skin:	n/a
50	chr3:110638102-110638152	GM12891	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110640909..110643004-chr3:110644318..110646224,2	MCF-7	breast:
2	chr3:110619099..110622092-chr3:110637747..110639314,2	K562	blood:
3	chr3:110640909..110643004-chr3:110644318..110646224,2	MCF-7	breast:
4	chr3:110302646..110303511-chr3:110658446..110659012,2	MCF-7	breast:
5	chr3:110617155..110618688-chr3:110622142..110624409,2	MCF-7	breast:
6	chr3:110619099..110622092-chr3:110637747..110639314,2	K562	blood:
7	chr3:110607994..110610105-chr3:110623997..110626169,2	MCF-7	breast:
8	chr3:110617155..110618688-chr3:110622142..110624409,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PVRL3-1	chr3:110639356-110640510	NONHSAT091132
2	lnc-PVRL3-1	chr3:110620481-110620612	NONHSAT091132
3	lnc-PVRL3-1	chr3:110624630-110624748	NONHSAT091132

No data

Variant related genes	Relation type
ENSG00000206532	TF binding region
ENSG00000206532	CpG island

Extended variants
information (count: 1852 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1852 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13319110	chr3:110614389-110614390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567748397	chr3:110614430-110614431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372422304	chr3:110614513-110614514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536665919	chr3:110614548-110614549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527535712	chr3:110614576-110614577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547312423	chr3:110614583-110614584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567091210	chr3:110614589-110614590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9857328	chr3:110614590-110614591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570337313	chr3:110614597-110614598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539004282	chr3:110614603-110614604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375299045	chr3:110614628-110614629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559197113	chr3:110614634-110614635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572577201	chr3:110614701-110614702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534871661	chr3:110614802-110614803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189338690	chr3:110614811-110614812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574168368	chr3:110614872-110614873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543019762	chr3:110614909-110614910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562906732	chr3:110614914-110614915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16857350	chr3:110614917-110614918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148609616	chr3:110614935-110614936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559576764	chr3:110614986-110614987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528309748	chr3:110615027-110615028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548371130	chr3:110615038-110615039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1381836	chr3:110615064-110615065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530176541	chr3:110615110-110615111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550287383	chr3:110615114-110615115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569997614	chr3:110615133-110615134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74760919	chr3:110615179-110615180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74772306	chr3:110615198-110615199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182230843	chr3:110615226-110615227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141386858	chr3:110615267-110615268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184929643	chr3:110615373-110615374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188969473	chr3:110615397-110615398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34220225	chr3:110615416-110615417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397773044	chr3:110615421-110615422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200435144	chr3:110615425-110615426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554697320	chr3:110615426-110615427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533908855	chr3:110615429-110615430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368762288	chr3:110615548-110615549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181655603	chr3:110615553-110615554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552427525	chr3:110615557-110615558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576792654	chr3:110615588-110615589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545769293	chr3:110615601-110615602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553009357	chr3:110615620-110615621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374577449	chr3:110615621-110615622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147433391	chr3:110615672-110615673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558088312	chr3:110615761-110615762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150704741	chr3:110615772-110615773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114343527	chr3:110615778-110615779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs12486322	chr3:110615825-110615826	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110607800-110619600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:110608200-110618400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:110611400-110628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:110612600-110635600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:110613400-110614600	Enhancers	HepG2	liver
6	chr3:110614200-110621200	Weak transcription	Liver	Liver
7	chr3:110614400-110615000	Enhancers	Fetal Intestine Small	intestine
8	chr3:110618400-110618600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:110618400-110620000	Enhancers	HSMMtube	muscle
10	chr3:110619000-110620000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:110619000-110620000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:110619000-110620400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:110619200-110620000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:110619200-110620000	Enhancers	Osteobl	bone
15	chr3:110619600-110619800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:110620000-110622400	Weak transcription	HSMMtube	muscle
17	chr3:110620200-110653800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:110621200-110621400	Enhancers	Pancreas	Pancrea
19	chr3:110621200-110621800	Enhancers	Liver	Liver
20	chr3:110621400-110621600	Enhancers	Fetal Muscle Leg	muscle
21	chr3:110621400-110621800	Flanking Active TSS	Pancreas	Pancrea
22	chr3:110621600-110625000	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:110621800-110622000	Enhancers	Pancreas	Pancrea
24	chr3:110622400-110622600	Enhancers	HSMMtube	muscle
25	chr3:110622400-110622800	Enhancers	HSMM	muscle
26	chr3:110622600-110623000	Flanking Active TSS	HSMMtube	muscle
27	chr3:110622600-110623400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:110622600-110623400	Enhancers	Brain Hippocampus Middle	brain
29	chr3:110622600-110623400	Enhancers	Fetal Heart	heart
30	chr3:110622600-110623600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:110622800-110623600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:110623000-110623200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:110623000-110623200	Enhancers	HSMMtube	muscle
34	chr3:110623000-110624000	Enhancers	Brain Substantia Nigra	brain
35	chr3:110623200-110627200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:110623600-110627400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:110623800-110624000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:110624000-110624600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:110624400-110625000	Weak transcription	Psoas Muscle	Psoas
40	chr3:110624600-110625200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:110625000-110625400	Enhancers	Fetal Muscle Leg	muscle
42	chr3:110625000-110625400	Enhancers	Psoas Muscle	Psoas
43	chr3:110625400-110625600	Enhancers	Fetal Kidney	kidney
44	chr3:110625800-110627800	Weak transcription	Fetal Kidney	kidney
45	chr3:110627200-110628600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:110627400-110627800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:110627400-110629400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:110627400-110629600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:110627600-110629000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:110627800-110629800	Enhancers	Fetal Kidney	kidney

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