Variant report

Variant	esv3402754
Chromosome Location	chr1:80794464-80798962
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	chr1:80798417-80798682	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr1:80796302-80796326	LNCaP	prostate:	n/a	n/a
3	E2F4	chr1:80798379-80798661	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:80798432-80798713	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:80798414-80798656	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:80798436-80798700	MCF10A-Er-Src	breast:	n/a	n/a
7	IRF4	chr1:80796553-80796925	GM12878	blood:	n/a	n/a
8	NR3C1	chr1:80796601-80796910	A549	lung:	n/a	n/a
9	NR3C1	chr1:80796562-80796828	A549	lung:	n/a	n/a
10	POLR2A	chr1:80796650-80796873	A549	lung:	n/a	n/a
11	RFX5	chr1:80797243-80797351	K562	blood:	n/a	n/a
12	STAT3	chr1:80798463-80798663	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr1:80798381-80798798	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr1:80798370-80798654	MCF10A-Er-Src	breast:	n/a	n/a
15	USF1	chr1:80796611-80796860	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000266033	TF binding region

Extended variants
information (count: 148 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540260393	chr1:80796323-80796324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs190100412	chr1:80796325-80796326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189695479	chr1:80796554-80796555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373286786	chr1:80796557-80796558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201914460	chr1:80796559-80796560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199816011	chr1:80796567-80796568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs192354858	chr1:80796569-80796570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs553018744	chr1:80796571-80796572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115849744	chr1:80796572-80796573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200997566	chr1:80796574-80796575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183108117	chr1:80796576-80796577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs114005164	chr1:80796587-80796588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550248501	chr1:80796588-80796589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs377624543	chr1:80796589-80796590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs377537890	chr1:80796600-80796601	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs35610525	chr1:80796615-80796616	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200057121	chr1:80796616-80796617	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs545227093	chr1:80796618-80796619	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200873187	chr1:80796619-80796620	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532753447	chr1:80796620-80796621	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs565522468	chr1:80796621-80796622	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs566010545	chr1:80796644-80796645	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201668176	chr1:80796647-80796648	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs575840515	chr1:80796649-80796650	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs184011743	chr1:80796650-80796651	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200273806	chr1:80796658-80796659	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111205022	chr1:80796659-80796660	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111139459	chr1:80796664-80796665	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544924287	chr1:80796668-80796669	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111363153	chr1:80796675-80796676	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs528866182	chr1:80796676-80796677	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs193061142	chr1:80796680-80796681	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs202188416	chr1:80796681-80796682	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs200417151	chr1:80796695-80796696	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs36108917	chr1:80796706-80796707	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs202165745	chr1:80796712-80796713	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs369025945	chr1:80796726-80796727	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs551282041	chr1:80796729-80796730	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs571457914	chr1:80796731-80796732	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372902629	chr1:80796737-80796738	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs376042510	chr1:80796743-80796744	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs550487278	chr1:80796750-80796751	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs369172763	chr1:80796757-80796758	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373247125	chr1:80796768-80796769	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs567240842	chr1:80796812-80796813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs536207917	chr1:80796813-80796814	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs1613886	chr1:80796836-80796837	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs552955389	chr1:80796840-80796841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs566624133	chr1:80796843-80796844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs539165569	chr1:80796844-80796845	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Ewing''s sarcoma	17952124	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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80796600-80796800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:80796800-80804600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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