Variant report

Variant	esv2752695
Chromosome Location	chr1:74995225-75008411
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	BACH1	chr1:75000150-75000202	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr1:75000289-75000474	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:75007339-75007399	HepG2	liver:	n/a	n/a
4	CTCF	chr1:75000140-75000290	AG10803	skin:	n/a	n/a
5	EP300	chr1:74999840-75000494	SK-N-SH	brain:	n/a	n/a
6	EP300	chr1:74996472-74998097	SK-N-SH	brain:	n/a	chr1:74996779-74996793
7	FOSL2	chr1:74999842-75000313	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr1:74999845-75000366	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr1:75003667-75003859	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr1:74999763-75000465	SK-N-SH	brain:	n/a	chr1:75000371-75000382
11	JUN	chr1:75004540-75004744	HepG2	liver:	n/a	chr1:75004673-75004686
12	JUND	chr1:74999844-75000345	SK-N-SH	brain:	n/a	n/a
13	MAFK	chr1:75003343-75003644	HepG2	liver:	n/a	chr1:75003472-75003487
14	MAFK	chr1:75003426-75003579	HepG2	liver:	n/a	chr1:75003472-75003487
15	NFIC	chr1:74999881-75000486	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr1:74999855-75000352	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr1:74999906-75000365	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:75006849-75007002	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:75004168-75005407	K562	blood:	n/a	n/a
20	POLR2A	chr1:75003166-75003772	K562	blood:	n/a	n/a
21	POLR2A	chr1:75004496-75004696	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr1:75006593-75006658	ProgFib	skin:	n/a	n/a
23	POLR2A	chr1:74999967-75000257	SK-N-SH	brain:	n/a	n/a
24	STAT3	chr1:74996951-74997085	MCF10A-Er-Src	breast:	n/a	n/a
25	TCF12	chr1:74999830-75000466	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr1:74999756-75000240	SK-N-SH	brain:	n/a	n/a
27	TEAD4	chr1:74999878-75000374	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75002770..75004477-chr3:136927967..136930965,2	K562	blood:

Variant related genes	Relation type
TNNI3K	TF binding region

Extended variants
information (count: 531 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:531 , 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	rs7551507	chr1:74995225-74995226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566181959	chr1:74995230-74995231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533662915	chr1:74995235-74995236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563095877	chr1:74995258-74995259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189643568	chr1:74995265-74995266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7517467	chr1:74995294-74995295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142099043	chr1:74995301-74995302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539029374	chr1:74995319-74995320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574563301	chr1:74995327-74995328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541622106	chr1:74995338-74995339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560300221	chr1:74995339-74995340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11210476	chr1:74995450-74995451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546337693	chr1:74995471-74995472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564459122	chr1:74995486-74995487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531767895	chr1:74995496-74995497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550447682	chr1:74995508-74995509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562286505	chr1:74995527-74995528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529592887	chr1:74995529-74995530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569552871	chr1:74995536-74995537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547646734	chr1:74995548-74995549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556453972	chr1:74995557-74995558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192605209	chr1:74995588-74995589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112604148	chr1:74995591-74995592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75630474	chr1:74995594-74995595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17095531	chr1:74995617-74995618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570107368	chr1:74995632-74995633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373063506	chr1:74995669-74995670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537481615	chr1:74995679-74995680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1355909	chr1:74995694-74995695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6696128	chr1:74995740-74995741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535765278	chr1:74995767-74995768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72675351	chr1:74995812-74995813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572305099	chr1:74995813-74995814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116585305	chr1:74995826-74995827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183715032	chr1:74995930-74995931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139076785	chr1:74995947-74995948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543404847	chr1:74995973-74995974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562133856	chr1:74996007-74996008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17613674	chr1:74996024-74996025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189256030	chr1:74996053-74996054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2344507	chr1:74996101-74996102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533392195	chr1:74996105-74996106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551843854	chr1:74996195-74996196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543960790	chr1:74996238-74996239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570169848	chr1:74996245-74996246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182003771	chr1:74996304-74996305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549485857	chr1:74996345-74996346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75475342	chr1:74996358-74996359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535373728	chr1:74996377-74996378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185608214	chr1:74996407-74996408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74990200-75006600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:74990200-75017200	Weak transcription	Left Ventricle	heart
3	chr1:74994400-75000400	Weak transcription	Fetal Heart	heart
4	chr1:74996400-74998000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:74996600-74997400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:74996800-74997200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:74996800-74997600	Enhancers	Adipose Nuclei	Adipose
8	chr1:74997000-74997800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:74997200-74999600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:74997600-75000000	Weak transcription	Adipose Nuclei	Adipose
11	chr1:74998000-75000000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:74999600-75000800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:74999600-75001000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:74999800-75001400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:75000000-75000800	Enhancers	Adipose Nuclei	Adipose
16	chr1:75000000-75001600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:75000400-75000800	Enhancers	Fetal Heart	heart
18	chr1:75000800-75012400	Weak transcription	Fetal Heart	heart
19	chr1:75005800-75007000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:75006000-75007400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:75006400-75006800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:75006400-75006800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:75007400-75012400	Weak transcription	Right Ventricle	heart
24	chr1:75007400-75014400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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