Variant report

Variant	esv3349775
Chromosome Location	chr5:147603659-147606857
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	BRCA1	chr5:147603608-147604422	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:147603542-147604483	Hela-S3	cervix:	n/a	chr5:147604236-147604247
3	E2F4	chr5:147603749-147604403	MCF10A-Er-Src	breast:	n/a	n/a
4	ELK4	chr5:147603960-147604296	Hela-S3	cervix:	n/a	n/a
5	EP300	chr5:147603493-147604416	Hela-S3	cervix:	n/a	chr5:147604184-147604191 chr5:147604204-147604218 chr5:147603933-147603940
6	FOS	chr5:147603501-147604405	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:147603510-147604326	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:147603670-147604262	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr5:147603729-147604002	MCF10A-Er-Src	breast:	n/a	n/a
10	GTF2F1	chr5:147603468-147604069	Hela-S3	cervix:	n/a	n/a
11	MAFK	chr5:147603475-147604476	Hela-S3	cervix:	n/a	n/a
12	MYC	chr5:147603554-147604003	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:147602992-147604354	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:147603483-147604270	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:147603442-147604578	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:147603540-147604150	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:147603205-147604591	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:147606021-147606069	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr5:147603504-147604008	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:147603821-147603870	MCF10A-Er-Src	breast:	n/a	n/a
21	PRDM1	chr5:147603633-147604131	Hela-S3	cervix:	n/a	n/a
22	RFX5	chr5:147603490-147604444	Hela-S3	cervix:	n/a	chr5:147603641-147603655
23	STAT3	chr5:147603655-147604150	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr5:147603514-147604338	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr5:147603512-147604339	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr5:147604546-147604593	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr5:147603525-147604447	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr5:147603515-147604432	MCF10A-Er-Src	breast:	n/a	n/a
29	TAF1	chr5:147603689-147603930	Hela-S3	cervix:	n/a	n/a
30	TBP	chr5:147603052-147604411	Hela-S3	cervix:	n/a	n/a
31	TCF7L2	chr5:147603682-147604114	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147602522..147604396-chr5:147607993..147610533,2	K562	blood:
2	chr5:147569510..147572351-chr5:147602489..147604362,3	K562	blood:

Variant related genes	Relation type
HMGN1P16	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138384114	chr5:147603666-147603667	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543395030	chr5:147603738-147603739	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562003261	chr5:147603779-147603780	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs190868939	chr5:147603780-147603781	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141581315	chr5:147603793-147603794	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566036309	chr5:147603796-147603797	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533466471	chr5:147603824-147603825	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs551898944	chr5:147603834-147603835	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77789611	chr5:147603864-147603865	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537634904	chr5:147603878-147603879	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555812986	chr5:147603879-147603880	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567972757	chr5:147603890-147603891	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs116738290	chr5:147603893-147603894	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs553362180	chr5:147603936-147603937	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139372084	chr5:147603982-147603983	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs33962776	chr5:147603984-147603985	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs571661185	chr5:147603996-147603997	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs138496390	chr5:147604030-147604031	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557827466	chr5:147604065-147604066	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576193879	chr5:147604069-147604070	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543583727	chr5:147604070-147604071	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561696640	chr5:147604098-147604099	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573886988	chr5:147604101-147604102	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541278205	chr5:147604108-147604109	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs559829533	chr5:147604109-147604110	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs143040831	chr5:147604113-147604114	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs146130655	chr5:147604130-147604131	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs183868642	chr5:147604169-147604170	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530880272	chr5:147604303-147604304	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs148758929	chr5:147604314-147604315	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs567718558	chr5:147604318-147604319	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs75061591	chr5:147604354-147604355	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546886502	chr5:147604367-147604368	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565380571	chr5:147604378-147604379	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539033945	chr5:147604381-147604382	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs141468806	chr5:147604421-147604422	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs150863269	chr5:147604431-147604432	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs187936383	chr5:147604448-147604449	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs555538443	chr5:147604475-147604476	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs558576346	chr5:147604572-147604573	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs573874139	chr5:147604590-147604591	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs541375279	chr5:147604598-147604599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372585069	chr5:147604642-147604643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1583279	chr5:147604648-147604649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192124766	chr5:147604709-147604710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545406883	chr5:147604731-147604732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563501629	chr5:147604732-147604733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184719637	chr5:147604769-147604770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549161673	chr5:147604776-147604777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373661568	chr5:147604793-147604794	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147594000-147604400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:147601000-147603800	Active TSS	Hela-S3	cervix
3	chr5:147603400-147604000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:147603400-147604600	Enhancers	NHEK	skin
5	chr5:147603600-147603800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:147603800-147605800	Enhancers	Hela-S3	cervix
7	chr5:147604400-147604600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:147605200-147608200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:147605800-147608400	Weak transcription	Hela-S3	cervix

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