Variant report

Variant	esv2756422
Chromosome Location	chr1:77324679-77328379
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	EP300	chr1:77328052-77328528	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr1:77327945-77328528	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr1:77327932-77328746	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr1:77328066-77328539	SK-N-SH	brain:	n/a	chr1:77328171-77328183
5	FOSL2	chr1:77328057-77328668	SK-N-SH	brain:	n/a	chr1:77328171-77328183
6	GATA3	chr1:77327908-77328810	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr1:77327887-77328753	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr1:77326827-77327434	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr1:77326915-77327455	SK-N-SH	brain:	n/a	n/a
10	JUND	chr1:77326874-77327193	HepG2	liver:	n/a	n/a
11	JUND	chr1:77327927-77328640	SK-N-SH	brain:	n/a	chr1:77328171-77328183
12	JUND	chr1:77327957-77328703	SK-N-SH	brain:	n/a	chr1:77328171-77328183
13	NFIC	chr1:77327862-77328744	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr1:77327962-77328689	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr1:77327970-77328567	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr1:77325587-77325606	Gliobla	brain:	n/a	n/a
17	POLR2A	chr1:77328136-77328511	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:77327217-77327396	MCF10A-Er-Src	breast:	n/a	n/a
19	SPI1	chr1:77327176-77327416	HL-60	blood:	n/a	chr1:77327294-77327303 chr1:77327291-77327304 chr1:77327292-77327305
20	TCF12	chr1:77327875-77328772	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr1:77327988-77328730	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:77325804..77328743-chr1:77329882..77332282,4	K562	blood:
2	chr1:77319935..77321770-chr1:77325781..77328772,2	K562	blood:
3	chr1:77326930..77328743-chr1:77330284..77333050,4	K562	blood:

Variant related genes	Relation type
ST6GALNAC5	TF binding region

Extended variants
information (count: 163 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555407564	chr1:77324709-77324710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138701193	chr1:77324776-77324777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541196096	chr1:77324788-77324789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559895878	chr1:77324797-77324798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533402416	chr1:77324832-77324833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142699975	chr1:77324854-77324855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10458495	chr1:77324865-77324866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114731170	chr1:77324879-77324880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549957597	chr1:77324933-77324934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567302306	chr1:77324961-77324962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528170714	chr1:77324988-77324989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561973636	chr1:77324995-77324996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527860212	chr1:77324997-77324998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374056108	chr1:77325017-77325018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375726623	chr1:77325053-77325054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10458496	chr1:77325101-77325102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs17099662	chr1:77325124-77325125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568833302	chr1:77325125-77325126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536176777	chr1:77325156-77325157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555319664	chr1:77325175-77325176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374288372	chr1:77325199-77325200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185927669	chr1:77325200-77325201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10782635	chr1:77325208-77325209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553203335	chr1:77325210-77325211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10873920	chr1:77325211-77325212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545296942	chr1:77325228-77325229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150709811	chr1:77325257-77325258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575991296	chr1:77325264-77325265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10458497	chr1:77325288-77325289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190439116	chr1:77325289-77325290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11162230	chr1:77325300-77325301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546632907	chr1:77325317-77325318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564832325	chr1:77325337-77325338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138105877	chr1:77325357-77325358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199507443	chr1:77325363-77325364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550487760	chr1:77325379-77325380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568739518	chr1:77325389-77325390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536139970	chr1:77325397-77325398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386632599	chr1:77325400-77325401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149530534	chr1:77325402-77325403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183125694	chr1:77325436-77325437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534713703	chr1:77325439-77325440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553406771	chr1:77325473-77325474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72999592	chr1:77325475-77325476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539155412	chr1:77325494-77325495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144085493	chr1:77325505-77325506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186552469	chr1:77325561-77325562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74739750	chr1:77325628-77325629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561576970	chr1:77325646-77325647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572749903	chr1:77325684-77325685	Weak transcription	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77319800-77333200	Weak transcription	Gastric	stomach
2	chr1:77320400-77333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:77327400-77329200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:77327800-77328200	Enhancers	Colon Smooth Muscle	Colon
5	chr1:77327800-77330600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:77327800-77331000	Enhancers	NHDF-Ad	bronchial
7	chr1:77328000-77329200	Enhancers	HSMM	muscle
8	chr1:77328000-77329200	Enhancers	HSMMtube	muscle
9	chr1:77328200-77328600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:77328200-77328800	Enhancers	Osteobl	bone

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