Variant report

Variant	esv2762256
Chromosome Location	chr2:52787949-52801074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:489)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:52796324-52796609	HepG2	liver:	n/a	chr2:52796497-52796508
2	CEBPB	chr2:52796334-52796619	A549	lung:	n/a	chr2:52796497-52796508
3	CEBPB	chr2:52796338-52796610	IMR90	lung:	n/a	chr2:52796497-52796508
4	MAFF	chr2:52796448-52796757	HepG2	liver:	n/a	n/a
5	MAFK	chr2:52796413-52796768	HepG2	liver:	n/a	n/a
6	MAFK	chr2:52796459-52796743	IMR90	lung:	n/a	n/a
7	MAFK	chr2:52796441-52796750	HepG2	liver:	n/a	n/a
8	MAFK	chr2:52796477-52796540	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr2:52792756-52792907	HepG2	liver:	n/a	chr2:52792809-52792820 chr2:52792830-52792841 chr2:52792829-52792840
10	MYC	chr2:52799139-52799240	MCF-7	breast:	n/a	n/a
11	POLR2A	chr2:52798767-52798782	A549	lung:	n/a	n/a
12	POLR2A	chr2:52794187-52794295	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr2:52797964-52798167	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:52799224-52799272	A549	lung:	n/a	n/a
15	POLR2A	chr2:52798576-52798591	MCF-7	breast:	n/a	n/a
16	POLR2A	chr2:52792207-52792384	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr2:52799275-52799330	A549	lung:	n/a	n/a
18	POLR2A	chr2:52798750-52798761	A549	lung:	n/a	n/a
19	POLR2A	chr2:52798073-52798151	A549	lung:	n/a	n/a
20	POLR2A	chr2:52798603-52798747	MCF-7	breast:	n/a	n/a
21	POLR2A	chr2:52788069-52788121	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr2:52797288-52797373	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:52798068-52798071	A549	lung:	n/a	n/a
24	POLR2A	chr2:52798497-52798703	MCF-7	breast:	n/a	n/a
25	SRF	chr2:52791373-52791505	GM12878	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:52799378-52799428	HCT-116	colon:	n/a
2	chr2:52799378-52799428	HCT-116	colon:	n/a
3	chr2:52799518-52799568	AG04449	skin:	fetal
4	chr2:52799970-52800020	HNPCEpiC	eye:	n/a
5	chr2:52799378-52799428	SK-N-MC	brain:	n/a
6	chr2:52799970-52800020	HMEC	breast:	n/a
7	chr2:52797873-52797923	HepG2	liver:	n/a
8	chr2:52798927-52798977	Jurkat	blood:	n/a
9	chr2:52799518-52799568	SK-N-MC	brain:	n/a
10	chr2:52799970-52800020	IMR90	lung:	fetal
11	chr2:52797873-52797923	AG04450	lung:	fetal
12	chr2:52797873-52797923	HEEpiC	esophagus:	n/a
13	chr2:52798927-52798977	IMR90	lung:	fetal
14	chr2:52796128-52796178	HNPCEpiC	eye:	n/a
15	chr2:52798363-52798413	HRE	kidney:	n/a
16	chr2:52799970-52800020	HCF	heart:	n/a
17	chr2:52799518-52799568	HUVEC	blood vessel:	n/a
18	chr2:52799970-52800020	PFSK-1	brain:	n/a
19	chr2:52799518-52799568	CMK	blood:	n/a
20	chr2:52798363-52798413	HL-60	blood:	n/a
21	chr2:52799970-52800020	T-47D	breast:	n/a
22	chr2:52797873-52797923	A549	lung:	n/a
23	chr2:52798363-52798413	Jurkat	blood:	n/a
24	chr2:52799518-52799568	GM12878	blood:	n/a
25	chr2:52798801-52798851	Caco-2	colon:	n/a
26	chr2:52799970-52800020	PrEC	prostate:	n/a
27	chr2:52798363-52798413	MCF-7	breast:	n/a
28	chr2:52796128-52796178	HUVEC	blood vessel:	n/a
29	chr2:52796128-52796178	SK-N-MC	brain:	n/a
30	chr2:52798927-52798977	NHBE	bronchial:	n/a
31	chr2:52798927-52798977	SAEC	small airway:	n/a
32	chr2:52797873-52797923	NHBE	bronchial:	n/a
33	chr2:52798927-52798977	HEEpiC	esophagus:	n/a
34	chr2:52799518-52799568	HCPEpiC	choroid plexus:	n/a
35	chr2:52799378-52799428	AoSMC	blood vessel:	n/a
36	chr2:52798927-52798977	GM12891	blood:	n/a
37	chr2:52798801-52798851	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:52796128-52796178	NHBE	bronchial:	n/a
39	chr2:52798927-52798977	SK-N-MC	brain:	n/a
40	chr2:52798801-52798851	A549	lung:	n/a
41	chr2:52799970-52800020	AG09319	gingival:	n/a
42	chr2:52799970-52800020	AG04450	lung:	fetal
43	chr2:52796128-52796178	ovcar-3	ovarian:	n/a
44	chr2:52797873-52797923	SK-N-MC	brain:	n/a
45	chr2:52798927-52798977	PFSK-1	brain:	n/a
46	chr2:52797873-52797923	Caco-2	colon:	n/a
47	chr2:52797873-52797923	GM12892	blood:	n/a
48	chr2:52796128-52796178	AG09309	skin:	n/a
49	chr2:52798801-52798851	HCT-116	colon:	n/a
50	chr2:52797873-52797923	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000204993	TF binding region
ENSG00000204993	CpG island

Extended variants
information (count: 542 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12622811	chr2:52787949-52787950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62128481	chr2:52787963-52787964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568419700	chr2:52787964-52787965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138075362	chr2:52787971-52787972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557458959	chr2:52787974-52787975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149571144	chr2:52787990-52787991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539673892	chr2:52788001-52788002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370644912	chr2:52788024-52788025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144228753	chr2:52788045-52788046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560342630	chr2:52788049-52788050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560571982	chr2:52788078-52788079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527569542	chr2:52788118-52788119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542997195	chr2:52788124-52788125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62128482	chr2:52788132-52788133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563265930	chr2:52788140-52788141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35973076	chr2:52788159-52788160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200575980	chr2:52788160-52788161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140867351	chr2:52788162-52788163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545717017	chr2:52788166-52788167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144725533	chr2:52788183-52788184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140304091	chr2:52788201-52788202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77036795	chr2:52788209-52788210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528381299	chr2:52788223-52788224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147472837	chr2:52788252-52788253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568483397	chr2:52788262-52788263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559406699	chr2:52788264-52788265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530964481	chr2:52788272-52788273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115115204	chr2:52788278-52788279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13030461	chr2:52788305-52788306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12373684	chr2:52788316-52788317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187831114	chr2:52788356-52788357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567025738	chr2:52788377-52788378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140099163	chr2:52788405-52788406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555673942	chr2:52788419-52788420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114803128	chr2:52788435-52788436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116637208	chr2:52788478-52788479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191444912	chr2:52788540-52788541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576871486	chr2:52788548-52788549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545838963	chr2:52788573-52788574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535311703	chr2:52788582-52788583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559308921	chr2:52788607-52788608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55769245	chr2:52788611-52788612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542032030	chr2:52788617-52788618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562083879	chr2:52788626-52788627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561992521	chr2:52788682-52788683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530823889	chr2:52788694-52788695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555393084	chr2:52788708-52788709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551035679	chr2:52788748-52788749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570785359	chr2:52788753-52788754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575342494	chr2:52788784-52788785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52785600-52795200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:52785800-52790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:52790000-52790200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:52790200-52790800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:52790800-52791000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:52791000-52791200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:52791200-52792400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:52798000-52798600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:52798000-52799600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:52798000-52800000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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