Variant report

Variant	nsv520730
Chromosome Location	chr5:147285713-147286054
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	ARID3A	chr5:147286007-147286246	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:147285944-147286326	MCF-7	breast:	n/a	n/a
3	CEBPB	chr5:147285959-147286295	MCF-7	breast:	n/a	n/a
4	CEBPB	chr5:147286017-147286314	A549	lung:	n/a	n/a
5	CEBPB	chr5:147285982-147286371	IMR90	lung:	n/a	n/a
6	CEBPB	chr5:147285984-147286351	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:147285923-147286385	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr5:147285886-147286280	Hela-S3	cervix:	n/a	n/a
9	E2F4	chr5:147286029-147286246	MCF10A-Er-Src	breast:	n/a	chr5:147286143-147286152
10	EP300	chr5:147285946-147286376	Hela-S3	cervix:	n/a	n/a
11	FOS	chr5:147285978-147286341	MCF10A-Er-Src	breast:	n/a	chr5:147286144-147286153
12	FOS	chr5:147285949-147286344	MCF10A-Er-Src	breast:	n/a	chr5:147286144-147286153
13	FOS	chr5:147285967-147286336	MCF10A-Er-Src	breast:	n/a	chr5:147286144-147286153
14	FOS	chr5:147285991-147286350	MCF10A-Er-Src	breast:	n/a	chr5:147286144-147286153
15	GATA3	chr5:147285782-147286488	SK-N-SH	brain:	n/a	chr5:147286416-147286424
16	GATA3	chr5:147285757-147286485	SK-N-SH	brain:	n/a	chr5:147286416-147286424
17	GATA3	chr5:147285850-147286242	T-47D	breast:	n/a	n/a
18	JUN	chr5:147286009-147286302	HepG2	liver:	n/a	chr5:147286144-147286153 chr5:147286143-147286156
19	JUN	chr5:147285957-147286401	Hela-S3	cervix:	n/a	chr5:147286144-147286153 chr5:147286143-147286156
20	JUND	chr5:147285975-147286476	Hela-S3	cervix:	n/a	chr5:147286144-147286153
21	JUND	chr5:147285961-147286324	HepG2	liver:	n/a	chr5:147286144-147286153
22	MAX	chr5:147285903-147286548	Hela-S3	cervix:	n/a	n/a
23	MYC	chr5:147285939-147286614	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr5:147285929-147286593	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr5:147285900-147286256	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr5:147285911-147286392	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr5:147285925-147286183	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:147286018-147286051	Gliobla	brain:	n/a	n/a
29	RCOR1	chr5:147285971-147286486	Hela-S3	cervix:	n/a	n/a
30	RFX5	chr5:147285907-147286305	Hela-S3	cervix:	n/a	n/a
31	STAT3	chr5:147285972-147286309	Hela-S3	cervix:	n/a	n/a
32	STAT3	chr5:147286012-147286330	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr5:147285969-147286330	MCF10A-Er-Src	breast:	n/a	n/a
34	TBP	chr5:147285984-147286319	Hela-S3	cervix:	n/a	n/a
35	USF2	chr5:147286002-147286149	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
C5orf46	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7722416	chr5:147285713-147285714	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574968482	chr5:147285714-147285715	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542393453	chr5:147285878-147285879	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560688583	chr5:147285880-147285881	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188951592	chr5:147285898-147285899	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs72827192	chr5:147285899-147285900	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181195186	chr5:147285915-147285916	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370356372	chr5:147285931-147285932	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141343367	chr5:147286000-147286001	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370032483	chr5:147286002-147286003	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7722926	chr5:147286013-147286014	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs372380037	chr5:147286045-147286046	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139879345	chr5:147286046-147286047	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115395632	chr5:147286053-147286054	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2250145	chr5:147286054-147286055	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:75)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147273400-147289000	Weak transcription	Left Ventricle	heart
2	chr5:147280400-147286000	Weak transcription	Stomach Mucosa	stomach
3	chr5:147281400-147285800	Weak transcription	HSMMtube	muscle
4	chr5:147281800-147285800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:147283400-147286800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:147283600-147286800	Enhancers	HMEC	breast
7	chr5:147283800-147285800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:147284000-147286200	Active TSS	Aorta	Aorta
9	chr5:147284000-147286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:147284200-147286000	Active TSS	Placenta Amnion	Placenta Amnion
11	chr5:147284200-147291000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:147284400-147285800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:147285000-147286000	Active TSS	Right Atrium	heart
14	chr5:147285000-147286200	Active TSS	Right Ventricle	heart
15	chr5:147285000-147286800	Enhancers	Fetal Heart	heart
16	chr5:147285200-147285800	Weak transcription	Osteobl	bone
17	chr5:147285400-147285800	Active TSS	NH-A	brain
18	chr5:147285400-147286800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:147285600-147286800	Enhancers	Hela-S3	cervix
20	chr5:147285800-147286000	Enhancers	HSMMtube	muscle
21	chr5:147285800-147286000	Enhancers	NHEK	skin
22	chr5:147285800-147286200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:147285800-147286200	Flanking Active TSS	NH-A	brain
24	chr5:147285800-147286200	Flanking Active TSS	Osteobl	bone
25	chr5:147285800-147286600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:147285800-147286600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:147285800-147286600	Enhancers	HSMM	muscle
28	chr5:147285800-147286800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:147285800-147286800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:147285800-147286800	Enhancers	Placenta	Placenta
31	chr5:147286000-147286200	Enhancers	Right Atrium	heart
32	chr5:147286000-147286200	Enhancers	Stomach Mucosa	stomach
33	chr5:147286000-147286200	Flanking Active TSS	HSMMtube	muscle
34	chr5:147286000-147286600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:147286000-147286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:147286000-147286600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:147286000-147286600	Enhancers	Gastric	stomach
38	chr5:147286000-147286600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr5:147286000-147286600	Flanking Active TSS	NHEK	skin
40	chr5:147286000-147286800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:147286000-147286800	Enhancers	Pancreas	Pancrea

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