Variant report

Variant	esv3369120
Chromosome Location	chr5:117043102-117066162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:117049153-117049707	HCT-116	colon:	n/a	n/a
2	CBX3	chr5:117049274-117049666	K562	blood:	n/a	n/a
3	CBX3	chr5:117049291-117049655	K562	blood:	n/a	n/a
4	CBX3	chr5:117049184-117049819	HCT-116	colon:	n/a	n/a
5	CEBPZ	chr5:117049337-117049629	HepG2	liver:	n/a	n/a
6	CTCF	chr5:117049440-117049590	NHEK	skin:	n/a	n/a
7	E2F4	chr5:117049850-117050028	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr5:117043607-117043713	MCF10A-Er-Src	breast:	n/a	n/a
9	ELF1	chr5:117049201-117049754	HCT-116	colon:	n/a	n/a
10	EP300	chr5:117049312-117049533	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr5:117049218-117049689	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr5:117049356-117049650	K562	blood:	n/a	n/a
13	EP300	chr5:117049410-117049602	GM12878	blood:	n/a	n/a
14	EP300	chr5:117049313-117049626	ECC-1	luminal epithelium:	n/a	n/a
15	FOS	chr5:117049389-117049401	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA3	chr5:117044332-117044659	SH-SY5Y	brain:	n/a	n/a
17	HCFC1	chr5:117049411-117049447	K562	blood:	n/a	n/a
18	JUND	chr5:117047308-117047539	HepG2	liver:	n/a	n/a
19	KAP1	chr5:117049085-117049923	HEK293	kidney:	n/a	n/a
20	KAP1	chr5:117049025-117049840	K562	blood:	n/a	n/a
21	KAP1	chr5:117049071-117049828	U2OS	brain:	n/a	n/a
22	MAX	chr5:117049355-117049609	NB4	blood:	n/a	n/a
23	MAX	chr5:117049282-117049628	HCT-116	colon:	n/a	n/a
24	MAX	chr5:117049359-117049559	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr5:117045703-117045791	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr5:117049392-117049592	MCF10A-Er-Src	breast:	n/a	n/a
27	NR3C1	chr5:117055140-117055398	ECC-1	luminal epithelium:	n/a	n/a
28	NR3C1	chr5:117055044-117055530	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr5:117052362-117052535	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:117043835-117043841	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr5:117063982-117064011	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:117049484-117049522	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr5:117065070-117065212	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:117049342-117049606	HCT-116	colon:	n/a	n/a
35	POLR2A	chr5:117050766-117050852	MCF10A-Er-Src	breast:	n/a	n/a
36	SETDB1	chr5:117048996-117049874	U2OS	brain:	n/a	n/a
37	STAT1	chr5:117049347-117049517	GM12878	blood:	n/a	n/a
38	STAT3	chr5:117046793-117046993	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:117048580-117048604	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr5:117049336-117050103	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr5:117043956-117044134	MCF10A-Er-Src	breast:	n/a	n/a
42	TBL1XR1	chr5:117049458-117049507	K562	blood:	n/a	n/a
43	TCF12	chr5:117049199-117049697	A549	lung:	n/a	n/a
44	TCF12	chr5:117049405-117049536	H1-hESC	embryonic stem cell:	n/a	n/a
45	TRIM28	chr5:117049277-117049694	K562	blood:	n/a	n/a
46	UBTF	chr5:117049537-117049629	K562	blood:	n/a	n/a
47	USF1	chr5:117049283-117049711	HCT-116	colon:	n/a	n/a
48	USF1	chr5:117049283-117049711	ECC-1	luminal epithelium:	n/a	n/a
49	USF1	chr5:117049333-117049621	A549	lung:	n/a	n/a
50	USF1	chr5:117049250-117049674	A549	lung:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:117050991..117053069-chr5:117068100..117070459,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-13	chr5:117054935-117055640	NONHSAT103389
2	lnc-DMXL1-4	chr5:117066056-117066103	NR_104997
3	lnc-DTWD2-13	chr5:117057573-117057792	NONHSAT103389

No data

Variant related genes	Relation type
ENSG00000251477	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377463163	chr5:117054938-117054939	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs572312627	chr5:117054982-117054983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs547311749	chr5:117054985-117054986	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs80182302	chr5:117054986-117054987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs17142939	chr5:117055037-117055038	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181727019	chr5:117055041-117055042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs186289535	chr5:117055042-117055043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189945738	chr5:117055110-117055111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1358226	chr5:117055145-117055146	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546133938	chr5:117055182-117055183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs531042906	chr5:117055192-117055193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs368675304	chr5:117055218-117055219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs180753660	chr5:117055219-117055220	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569632580	chr5:117055223-117055224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562110389	chr5:117055230-117055231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs531047800	chr5:117055263-117055264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs536666305	chr5:117055264-117055265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs551076451	chr5:117055323-117055324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs113234958	chr5:117055359-117055360	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs147683826	chr5:117055364-117055365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs539834826	chr5:117055419-117055420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs546977013	chr5:117055428-117055429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs186139561	chr5:117055431-117055432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs79119598	chr5:117055439-117055440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113513408	chr5:117055482-117055483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs190727875	chr5:117055525-117055526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs148719030	chr5:117055557-117055558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs368592231	chr5:117055604-117055605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs536778196	chr5:117055615-117055616	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs183262809	chr5:117055636-117055637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs545008366	chr5:117057575-117057576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs564909079	chr5:117057646-117057647	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs376813371	chr5:117057658-117057659	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs577876793	chr5:117057663-117057664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs540506145	chr5:117057685-117057686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs184127124	chr5:117057708-117057709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs529082689	chr5:117057710-117057711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs549139881	chr5:117057722-117057723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs562579472	chr5:117057750-117057751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs147272712	chr5:117057753-117057754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs188149446	chr5:117057755-117057756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs139770388	chr5:117057762-117057763	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs116137276	chr5:117057782-117057783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs548045306	chr5:117057785-117057786	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs562626926	chr5:117066085-117066086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs185877618	chr5:117066103-117066104	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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