Variant report

Variant	esv3331702
Chromosome Location	chr5:117230102-117259590
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	chr5:117238164-117238250	A549	lung:	n/a	n/a
2	CTCF	chr5:117242230-117242302	GM10248	blood:	n/a	n/a
3	CUX1	chr5:117251573-117251663	GM12878	blood:	n/a	n/a
4	E2F4	chr5:117255351-117255488	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr5:117238676-117238808	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr5:117241110-117241297	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA3	chr5:117239495-117239650	SH-SY5Y	brain:	n/a	n/a
8	MAZ	chr5:117236252-117236380	HepG2	liver:	n/a	n/a
9	MXI1	chr5:117246961-117247037	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:117233771-117233971	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr5:117259311-117259443	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:117241193-117241393	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:117259256-117259380	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr5:117240084-117240213	MCF-7	breast:	n/a	n/a
15	POLR2A	chr5:117258695-117258852	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:117238372-117238899	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr5:117237974-117237983	MCF10A-Er-Src	breast:	n/a	n/a
18	SPI1	chr5:117252124-117252307	GM12878	blood:	n/a	n/a
19	SPI1	chr5:117252129-117252246	K562	blood:	n/a	n/a
20	SPI1	chr5:117252127-117252236	GM12878	blood:	n/a	n/a
21	SPI1	chr5:117242466-117242636	GM12878	blood:	n/a	n/a
22	SPI1	chr5:117242471-117242639	K562	blood:	n/a	n/a
23	SPI1	chr5:117242485-117242630	K562	blood:	n/a	n/a
24	SPI1	chr5:117242446-117242635	GM12891	blood:	n/a	n/a
25	SPI1	chr5:117252131-117252236	K562	blood:	n/a	n/a
26	STAT3	chr5:117239470-117239655	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr5:117232449-117232585	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr5:117258854-117259054	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000249797	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181156605	chr5:117246255-117246256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569599684	chr5:117246287-117246288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537831223	chr5:117246341-117246342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557478460	chr5:117246350-117246351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571275141	chr5:117246361-117246362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533673448	chr5:117246383-117246384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553900317	chr5:117246405-117246406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77671404	chr5:117246433-117246434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542444832	chr5:117246456-117246457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545872654	chr5:117246472-117246473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556038676	chr5:117246478-117246479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145444389	chr5:117246503-117246504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547341369	chr5:117246524-117246525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56287832	chr5:117246535-117246536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189555315	chr5:117246545-117246546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564324862	chr5:117246560-117246561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76650383	chr5:117246600-117246601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113373332	chr5:117246617-117246618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115973287	chr5:117246678-117246679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143580661	chr5:117246681-117246682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76013154	chr5:117246693-117246694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148044399	chr5:117246703-117246704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79219061	chr5:117246742-117246743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4472293	chr5:117246760-117246761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs571172787	chr5:117246789-117246790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79662810	chr5:117246804-117246805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547157714	chr5:117246807-117246808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140828144	chr5:117246817-117246818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536026706	chr5:117246914-117246915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555946550	chr5:117246917-117246918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6595069	chr5:117246999-117247000	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs538577087	chr5:117247020-117247021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570127963	chr5:117247025-117247026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530807255	chr5:117247052-117247053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539329940	chr5:117247094-117247095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182171755	chr5:117247115-117247116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79152579	chr5:117247120-117247121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570590841	chr5:117247126-117247127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73786754	chr5:117247128-117247129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560379151	chr5:117247215-117247216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574191193	chr5:117247237-117247238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114168429	chr5:117247267-117247268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563098809	chr5:117247295-117247296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532011030	chr5:117247309-117247310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551773171	chr5:117247320-117247321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565602314	chr5:117247323-117247324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527288866	chr5:117247343-117247344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6884578	chr5:117247348-117247349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566979759	chr5:117247387-117247388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186815205	chr5:117247395-117247396	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117246200-117247000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:117246200-117247200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr5:117246400-117247400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:117246400-117247400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:117246600-117247200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:117250000-117250200	Enhancers	Gastric	stomach

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