Variant report

Variant	esv1799120
Chromosome Location	chr3:78562104-78579242
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	E2F4	chr3:78564456-78564656	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr3:78577072-78577189	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr3:78577440-78577562	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr3:78578876-78578922	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr3:78578789-78579079	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr3:78578777-78579070	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA1	chr3:78577895-78578180	T-47D	breast:	n/a	n/a
8	MAFF	chr3:78565603-78565957	K562	blood:	n/a	chr3:78565778-78565796
9	MAFF	chr3:78564133-78564400	HepG2	liver:	n/a	n/a
10	MAFF	chr3:78565581-78565975	HepG2	liver:	n/a	chr3:78565778-78565796
11	MAFF	chr3:78566415-78566615	HepG2	liver:	n/a	n/a
12	MAFK	chr3:78565599-78565973	HepG2	liver:	n/a	chr3:78565779-78565794
13	MAFK	chr3:78565599-78565963	H1-hESC	embryonic stem cell:	n/a	chr3:78565779-78565794
14	MAFK	chr3:78565411-78565966	GM12878	blood:	n/a	chr3:78565779-78565794
15	MAFK	chr3:78565600-78565979	IMR90	lung:	n/a	chr3:78565779-78565794
16	MAFK	chr3:78564184-78564344	IMR90	lung:	n/a	chr3:78564273-78564284 chr3:78564273-78564288 chr3:78564273-78564284
17	MAFK	chr3:78567949-78567957	HepG2	liver:	n/a	n/a
18	MAFK	chr3:78565592-78565972	HepG2	liver:	n/a	chr3:78565779-78565794
19	MAFK	chr3:78566411-78566685	HepG2	liver:	n/a	n/a
20	MAFK	chr3:78564134-78564403	HepG2	liver:	n/a	chr3:78564273-78564284 chr3:78564273-78564288 chr3:78564273-78564284
21	MAFK	chr3:78565608-78565955	K562	blood:	n/a	chr3:78565779-78565794
22	MAFK	chr3:78565600-78565956	Hela-S3	cervix:	n/a	chr3:78565779-78565794
23	MAFK	chr3:78564131-78564389	HepG2	liver:	n/a	chr3:78564273-78564284 chr3:78564273-78564288 chr3:78564273-78564284
24	MYC	chr3:78563071-78563142	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr3:78569649-78569665	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr3:78575735-78575876	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr3:78568389-78568417	MCF10A-Er-Src	breast:	n/a	n/a
28	RAD21	chr3:78567075-78567257	H1-hESC	embryonic stem cell:	n/a	n/a
29	STAT3	chr3:78570948-78571148	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr3:78576154-78576354	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr3:78572707-78572736	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr3:78566615-78566639	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr3:78578730-78578894	MCF10A-Er-Src	breast:	n/a	chr3:78578823-78578835
34	STAT3	chr3:78577953-78577960	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:78565489..78567089-chr3:78577179..78578919,2	MCF-7	breast:
2	chr3:78565489..78567089-chr3:78577179..78578919,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROBO2-9	chr3:78574251-78574635	NONHSAT090578

Variant related genes	Relation type
MRPS17P3	TF binding region

Extended variants
information (count: 351 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529968834	chr3:78562110-78562111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550659190	chr3:78562115-78562116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139756995	chr3:78562137-78562138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554751202	chr3:78562172-78562173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537350512	chr3:78562184-78562185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13098427	chr3:78562193-78562194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577014499	chr3:78562194-78562195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12631181	chr3:78562230-78562231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569676305	chr3:78562259-78562260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9631520	chr3:78562268-78562269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553465951	chr3:78562272-78562273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9631521	chr3:78562286-78562287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541894095	chr3:78562289-78562290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9631522	chr3:78562318-78562319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530774433	chr3:78562342-78562343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147747787	chr3:78562350-78562351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192847458	chr3:78562367-78562368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533617922	chr3:78562391-78562392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9631523	chr3:78562411-78562412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559428601	chr3:78562485-78562486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528209731	chr3:78562518-78562519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548264119	chr3:78562519-78562520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11419149	chr3:78562522-78562523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398106077	chr3:78562525-78562526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143038484	chr3:78562546-78562547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151150315	chr3:78562554-78562555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550893086	chr3:78562562-78562563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34411201	chr3:78562576-78562577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184870035	chr3:78562579-78562580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539646201	chr3:78562596-78562597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140178655	chr3:78562614-78562615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4680994	chr3:78562626-78562627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113180702	chr3:78562631-78562632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570964617	chr3:78562639-78562640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115867559	chr3:78562650-78562651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569279686	chr3:78562663-78562664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555395273	chr3:78562667-78562668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35131002	chr3:78562668-78562669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114799888	chr3:78562676-78562677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564836094	chr3:78562701-78562702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578172797	chr3:78562743-78562744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187691600	chr3:78562751-78562752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560527275	chr3:78562783-78562784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201877564	chr3:78562792-78562793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571076379	chr3:78562793-78562794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529459221	chr3:78562794-78562795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11306219	chr3:78562803-78562804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138019996	chr3:78562873-78562874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561756196	chr3:78562881-78562882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370190923	chr3:78562884-78562885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78560600-78564600	Weak transcription	Stomach Mucosa	stomach
2	chr3:78564600-78565000	Enhancers	Stomach Mucosa	stomach
3	chr3:78566600-78567400	Enhancers	Brain Germinal Matrix	brain
4	chr3:78566800-78567600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:78566800-78568000	Enhancers	Fetal Lung	lung
6	chr3:78567000-78567400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:78567000-78567400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:78567000-78567400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:78567000-78567600	Enhancers	HepG2	liver
10	chr3:78567200-78567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:78567400-78568000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:78568000-78570000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:78568600-78569200	Enhancers	HSMMtube	muscle
14	chr3:78570000-78570400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:78570400-78570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:78578800-78579400	Enhancers	NHEK	skin
17	chr3:78578800-78579600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:78578800-78579800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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