Variant report

Variant	nsv1051036
Chromosome Location	chr13:66367207-66385182
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	chr13:66367393-66367619	IMR90	lung:	n/a	n/a
2	E2F4	chr13:66380583-66380641	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr13:66382203-66382600	HUVEC	blood vessel:	n/a	n/a
4	GATA3	chr13:66380836-66380964	SH-SY5Y	brain:	n/a	chr13:66380878-66380887 chr13:66380878-66380885 chr13:66380878-66380885 chr13:66380877-66380887 chr13:66380874-66380890 chr13:66380871-66380892 chr13:66380887-66380896 chr13:66380878-66380885
5	IKZF1	chr13:66371922-66371996	GM12878	blood:	n/a	n/a
6	JUN	chr13:66382298-66382470	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFF	chr13:66369783-66369995	HepG2	liver:	n/a	n/a
8	MAFF	chr13:66369836-66369882	K562	blood:	n/a	n/a
9	MAFK	chr13:66369760-66369880	Hela-S3	cervix:	n/a	n/a
10	MAFK	chr13:66375627-66375891	HepG2	liver:	n/a	chr13:66375732-66375752
11	MAFK	chr13:66369714-66369990	HepG2	liver:	n/a	n/a
12	MAFK	chr13:66369717-66369995	HepG2	liver:	n/a	n/a
13	MAFK	chr13:66369747-66370006	IMR90	lung:	n/a	n/a
14	MAFK	chr13:66369822-66369829	K562	blood:	n/a	n/a
15	MAFK	chr13:66375688-66375788	HepG2	liver:	n/a	chr13:66375732-66375752
16	MAFK	chr13:66375752-66375843	IMR90	lung:	n/a	n/a
17	MYC	chr13:66381039-66381040	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr13:66383236-66383252	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr13:66382441-66382626	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr13:66376238-66376307	MCF10A-Er-Src	breast:	n/a	n/a
21	NRF1	chr13:66370631-66370714	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr13:66371597-66371865	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr13:66384177-66384312	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr13:66383074-66383117	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr13:66379648-66379666	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr13:66369750-66370039	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr13:66382296-66382514	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF7L2	chr13:66384086-66384397	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:66377468..66378968-chr8:43092929..43094908,2	MCF-7	breast:

Variant related genes	Relation type
HNRNPA3P5	TF binding region

Extended variants
information (count: 441 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75029149	chr13:66367403-66367404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568073213	chr13:66367437-66367438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550144686	chr13:66367450-66367451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4884625	chr13:66367477-66367478	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535884460	chr13:66367486-66367487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs9540556	chr13:66367525-66367526	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183965160	chr13:66367547-66367548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539780725	chr13:66367551-66367552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs546704683	chr13:66367614-66367615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529853900	chr13:66372053-66372054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78003290	chr13:66372062-66372063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560565409	chr13:66372065-66372066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532680612	chr13:66372084-66372085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552589505	chr13:66372108-66372109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569199987	chr13:66372139-66372140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183206718	chr13:66372140-66372141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151218735	chr13:66372146-66372147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57780307	chr13:66372163-66372164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs66525436	chr13:66372164-66372165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117127796	chr13:66372174-66372175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113004146	chr13:66372183-66372184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568670281	chr13:66372191-66372192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532193216	chr13:66372192-66372193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186475009	chr13:66372222-66372223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2151399	chr13:66372278-66372279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566210371	chr13:66372316-66372317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191012593	chr13:66372345-66372346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76863201	chr13:66372386-66372387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575128499	chr13:66372413-66372414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575328979	chr13:66372479-66372480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182722088	chr13:66372482-66372483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17077666	chr13:66372497-66372498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540405861	chr13:66372517-66372518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149523227	chr13:66372560-66372561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34585602	chr13:66372574-66372575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577127657	chr13:66372587-66372588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546292696	chr13:66372589-66372590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140409535	chr13:66372614-66372615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372956902	chr13:66372635-66372636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74704605	chr13:66372680-66372681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs207473933	chr13:66372761-66372762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13378526	chr13:66372776-66372777	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548336624	chr13:66372823-66372824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17548600	chr13:66372837-66372838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144044579	chr13:66372841-66372842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17077668	chr13:66372882-66372883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570681304	chr13:66372891-66372892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17077670	chr13:66372935-66372936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187717471	chr13:66372942-66372943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552206854	chr13:66372960-66372961	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66372000-66373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:66373600-66376400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:66376400-66377200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:66376600-66377000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:66377000-66379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:66377200-66379000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:66379000-66379200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:66379000-66379400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:66379200-66379600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:66379400-66382200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:66379600-66379800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:66379800-66382400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:66380800-66382000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:66381000-66382800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:66381000-66382800	Enhancers	Osteobl	bone
16	chr13:66381400-66383200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:66381800-66383400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:66382000-66382200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:66382200-66382600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:66382200-66383000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:66382400-66382800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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