Variant report

Variant	esv1829798
Chromosome Location	chr9:10831563-10847788
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	chr9:10831699-10831969	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:10838394-10838591	HepG2	liver:	n/a	chr9:10838508-10838519
3	CEBPB	chr9:10843733-10844029	HepG2	liver:	n/a	chr9:10843883-10843894
4	MAFK	chr9:10841186-10841405	HepG2	liver:	n/a	n/a
5	MAZ	chr9:10840409-10840462	HepG2	liver:	n/a	n/a
6	MYC	chr9:10845005-10845193	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr9:10836171-10836251	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFYB	chr9:10836776-10836832	GM12878	blood:	n/a	n/a
9	NFYB	chr9:10836675-10836912	K562	blood:	n/a	n/a
10	POLR2A	chr9:10843932-10844025	A549	lung:	n/a	n/a
11	POLR2A	chr9:10832026-10832368	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr9:10845006-10845040	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr9:10831972-10832437	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
IMP3P1	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191054432	chr9:10831703-10831704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572546343	chr9:10831736-10831737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183568829	chr9:10831748-10831749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111759213	chr9:10831757-10831758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs570918018	chr9:10831785-10831786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577564697	chr9:10831823-10831824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187850140	chr9:10831828-10831829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563533013	chr9:10831848-10831849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs529059263	chr9:10831880-10831881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs559609827	chr9:10831891-10831892	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs10118334	chr9:10831923-10831924	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556121657	chr9:10831928-10831929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551845040	chr9:10831955-10831956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532259163	chr9:10831978-10831979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576353991	chr9:10832021-10832022	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571657680	chr9:10832029-10832030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs550872970	chr9:10832030-10832031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537772824	chr9:10832047-10832048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs386732587	chr9:10832051-10832052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs10118957	chr9:10832052-10832053	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113191361	chr9:10832080-10832081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs10125075	chr9:10832159-10832160	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs56165082	chr9:10832259-10832260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs534409104	chr9:10832296-10832297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10959318	chr9:10832298-10832299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189977976	chr9:10832308-10832309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10959319	chr9:10832325-10832326	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144571810	chr9:10832333-10832334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182731682	chr9:10832340-10832341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs533039189	chr9:10832341-10832342	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377609799	chr9:10832354-10832355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112968575	chr9:10832355-10832356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs188066342	chr9:10832356-10832357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs76994220	chr9:10832366-10832367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551888502	chr9:10832412-10832413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs78072840	chr9:10833401-10833402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189240798	chr9:10833405-10833406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560431125	chr9:10833406-10833407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79874825	chr9:10833419-10833420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180955768	chr9:10833423-10833424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7036372	chr9:10833443-10833444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184321653	chr9:10833469-10833470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116469927	chr9:10833502-10833503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535754347	chr9:10833536-10833537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189631014	chr9:10833547-10833548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567219804	chr9:10833565-10833566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536257388	chr9:10833577-10833578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546578697	chr9:10833597-10833598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368342294	chr9:10833619-10833620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538931119	chr9:10833625-10833626	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10833400-10834200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:10836000-10836400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:10836200-10836400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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