Variant report

Variant	esv2763283
Chromosome Location	chr3:80236103-80266208
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	CEBPB	chr3:80250159-80250442	IMR90	lung:	n/a	n/a
2	CEBPB	chr3:80243685-80243986	HepG2	liver:	n/a	chr3:80243842-80243853
3	CEBPB	chr3:80243690-80243967	A549	lung:	n/a	chr3:80243842-80243853
4	CEBPB	chr3:80262387-80262488	HepG2	liver:	n/a	chr3:80262396-80262408
5	CEBPB	chr3:80243672-80243983	IMR90	lung:	n/a	chr3:80243842-80243853
6	CEBPB	chr3:80239144-80239692	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr3:80243766-80243971	Hela-S3	cervix:	n/a	chr3:80243842-80243853
8	CEBPB	chr3:80239262-80239557	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr3:80250182-80250402	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr3:80250148-80250467	A549	lung:	n/a	n/a
11	CEBPB	chr3:80243693-80243916	K562	blood:	n/a	chr3:80243842-80243853
12	CEBPB	chr3:80263734-80263847	A549	lung:	n/a	chr3:80263788-80263799
13	CHD2	chr3:80264442-80264677	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr3:80239360-80239510	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr3:80259537-80259597	GM20000	blood:	n/a	n/a
16	CTCF	chr3:80241240-80241390	GM12873	blood:	n/a	n/a
17	CTCF	chr3:80239240-80239390	HPAF	blood vessel:	n/a	n/a
18	E2F4	chr3:80254365-80254431	MCF10A-Er-Src	breast:	n/a	n/a
19	ELF1	chr3:80239087-80239620	SK-N-SH	brain:	n/a	n/a
20	EP300	chr3:80239101-80239605	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr3:80238905-80239813	ECC-1	luminal epithelium:	n/a	n/a
22	EP300	chr3:80239066-80239784	SK-N-SH	brain:	n/a	n/a
23	EP300	chr3:80239120-80239708	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr3:80239095-80239763	SK-N-SH	brain:	n/a	n/a
25	EP300	chr3:80242315-80242585	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr3:80239096-80239804	SK-N-SH	brain:	n/a	n/a
27	EP300	chr3:80255380-80255626	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr3:80238995-80239772	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr3:80239100-80239603	ECC-1	luminal epithelium:	n/a	n/a
30	ESR1	chr3:80239192-80239626	ECC-1	luminal epithelium:	n/a	n/a
31	FOS	chr3:80239165-80239670	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr3:80241996-80242539	MCF10A-Er-Src	breast:	n/a	chr3:80242210-80242221
33	FOS	chr3:80239245-80239680	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr3:80242062-80242517	MCF10A-Er-Src	breast:	n/a	chr3:80242210-80242221
35	FOS	chr3:80238910-80239671	HUVEC	blood vessel:	n/a	n/a
36	FOS	chr3:80238360-80238537	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr3:80242041-80242553	MCF10A-Er-Src	breast:	n/a	chr3:80242210-80242221
38	FOS	chr3:80242000-80242600	HUVEC	blood vessel:	n/a	chr3:80242210-80242221
39	FOS	chr3:80242095-80242539	MCF10A-Er-Src	breast:	n/a	chr3:80242210-80242221
40	FOS	chr3:80239282-80239666	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:80239222-80239685	MCF10A-Er-Src	breast:	n/a	n/a
42	FOSL2	chr3:80242057-80242519	MCF-7	breast:	n/a	n/a
43	FOSL2	chr3:80242095-80242458	MCF-7	breast:	n/a	n/a
44	FOSL2	chr3:80241955-80242303	A549	lung:	n/a	n/a
45	FOSL2	chr3:80238984-80239788	SK-N-SH	brain:	n/a	n/a
46	FOXM1	chr3:80238861-80239904	ECC-1	luminal epithelium:	n/a	n/a
47	FOXM1	chr3:80238981-80239774	ECC-1	luminal epithelium:	n/a	n/a
48	FOXP2	chr3:80239208-80239560	PFSK-1	brain:	n/a	n/a
49	GATA2	chr3:80242208-80242596	HUVEC	blood vessel:	n/a	n/a
50	GATA2	chr3:80239106-80239677	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
HNRNPA3P8	TF binding region

Extended variants
information (count: 637 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192106406	chr3:80238425-80238426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369722758	chr3:80238431-80238432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566611247	chr3:80238445-80238446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183898028	chr3:80238461-80238462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146069664	chr3:80238471-80238472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530327646	chr3:80238480-80238481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375277978	chr3:80238493-80238494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563415803	chr3:80238517-80238518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs5850471	chr3:80238521-80238522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188394150	chr3:80238538-80238539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545753885	chr3:80238543-80238544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564880543	chr3:80238570-80238571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527572498	chr3:80238591-80238592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549804404	chr3:80238619-80238620	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547307781	chr3:80238637-80238638	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575531872	chr3:80238653-80238654	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561111417	chr3:80238665-80238666	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77624747	chr3:80238672-80238673	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs565176534	chr3:80238712-80238713	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569726918	chr3:80238772-80238773	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538640799	chr3:80238782-80238783	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552199515	chr3:80238789-80238790	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373143472	chr3:80238813-80238814	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566285931	chr3:80238824-80238825	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535311033	chr3:80238831-80238832	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377291878	chr3:80238852-80238853	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs575001241	chr3:80238869-80238870	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537216680	chr3:80238886-80238887	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs557046293	chr3:80238897-80238898	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576921101	chr3:80238916-80238917	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545832065	chr3:80238928-80238929	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559681732	chr3:80238964-80238965	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs572275125	chr3:80238977-80238978	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs200737460	chr3:80238978-80238979	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541339197	chr3:80238994-80238995	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116708228	chr3:80239000-80239001	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs192044992	chr3:80239036-80239037	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549953574	chr3:80239067-80239068	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563422270	chr3:80239099-80239100	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368297835	chr3:80239107-80239108	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532236306	chr3:80239129-80239130	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552237912	chr3:80239151-80239152	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs80083936	chr3:80239194-80239195	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79464189	chr3:80239227-80239228	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs62254924	chr3:80239234-80239235	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115561712	chr3:80239250-80239251	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555579796	chr3:80239258-80239259	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368650019	chr3:80239268-80239269	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9681965	chr3:80239287-80239288	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187279011	chr3:80239302-80239303	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80238400-80238600	Enhancers	HUVEC	blood vessel
2	chr3:80238400-80239000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:80238600-80239400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:80238600-80240000	Flanking Active TSS	HUVEC	blood vessel
5	chr3:80238800-80239000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:80238800-80239200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:80238800-80239600	Active TSS	Ovary	ovary
8	chr3:80238800-80239800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:80238800-80239800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:80239000-80239200	Enhancers	NH-A	brain
11	chr3:80239000-80239400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:80239000-80239400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:80239000-80239600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:80239000-80239800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:80239000-80239800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:80239000-80239800	Enhancers	Hela-S3	cervix
17	chr3:80239200-80239600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:80239200-80239600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:80239200-80239600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:80239200-80239600	Enhancers	Fetal Lung	lung
21	chr3:80239200-80239800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:80239200-80239800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:80239200-80239800	Flanking Active TSS	NH-A	brain
24	chr3:80239200-80240000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:80239400-80239800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:80239600-80239800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:80239800-80240000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:80239800-80241800	Weak transcription	NH-A	brain
29	chr3:80240000-80243200	Enhancers	HUVEC	blood vessel
30	chr3:80241800-80242600	Enhancers	NH-A	brain
31	chr3:80256800-80257400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:80256800-80257600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:80256800-80257800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:80257200-80257600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:80257200-80257600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:80257200-80257600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:80257200-80257800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:80257400-80263400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:80257600-80262600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:80257600-80263400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:80257600-80264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:80257600-80267600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:80257800-80262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:80257800-80262600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:80262200-80263000	Enhancers	Fetal Heart	heart
46	chr3:80262400-80265000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:80262600-80264400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:80262600-80264800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:80263200-80263800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:80263400-80264200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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