Variant report

Variant	nsv1026314
Chromosome Location	chr5:117513961-117532376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:117523300-117523450	Caco-2	colon:	n/a	chr5:117523337-117523355 chr5:117523332-117523353
2	CTCF	chr5:117523321-117523359	GM12878	blood:	n/a	chr5:117523337-117523355 chr5:117523332-117523353
3	E2F4	chr5:117526329-117526792	MCF10A-Er-Src	breast:	n/a	chr5:117526524-117526535
4	E2F4	chr5:117525029-117525234	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr5:117529023-117529264	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr5:117522783-117523016	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:117528904-117529101	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:117529050-117529226	MCF10A-Er-Src	breast:	n/a	chr5:117529212-117529222
9	FOXA1	chr5:117530941-117531307	T-47D	breast:	n/a	n/a
10	MAFF	chr5:117530807-117530994	HepG2	liver:	n/a	n/a
11	MAFF	chr5:117529116-117529289	HepG2	liver:	n/a	chr5:117529210-117529224 chr5:117529204-117529222
12	MAFK	chr5:117529200-117529313	HepG2	liver:	n/a	chr5:117529213-117529223 chr5:117529207-117529227 chr5:117529210-117529224 chr5:117529206-117529221
13	MAFK	chr5:117529112-117529313	HepG2	liver:	n/a	chr5:117529213-117529223 chr5:117529207-117529227 chr5:117529210-117529224 chr5:117529206-117529221
14	MAFK	chr5:117530780-117531009	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:117529122-117529185	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:117515328-117515477	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:117525254-117525656	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr5:117527804-117527973	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr5:117521297-117521485	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:117529734-117529785	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:117518341-117518461	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:117520341-117520353	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF217	chr5:117515490-117515544	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:117532041-117532091	PFSK-1	brain:	n/a
2	chr5:117532041-117532091	CMK	blood:	n/a
3	chr5:117532041-117532091	GM12892	blood:	n/a
4	chr5:117532041-117532091	HCF	heart:	n/a
5	chr5:117532041-117532091	HCPEpiC	choroid plexus:	n/a
6	chr5:117532041-117532091	MCF-7	breast:	n/a
7	chr5:117532041-117532091	BJ	skin:	n/a
8	chr5:117532041-117532091	HRPEpiC	eye:	n/a
9	chr5:117532041-117532091	H1-hESC	embryonic stem cell:	embryo
10	chr5:117532041-117532091	A549	lung:	n/a
11	chr5:117532041-117532091	K562	blood:	n/a
12	chr5:117532041-117532091	GM19239	blood:	n/a
13	chr5:117532041-117532091	PrEC	prostate:	n/a
14	chr5:117532041-117532091	HMEC	breast:	n/a
15	chr5:117532041-117532091	NB4	blood:	n/a
16	chr5:117532041-117532091	LNCaP	prostate:	n/a
17	chr5:117532041-117532091	ECC-1	luminal epithelium:	n/a
18	chr5:117532041-117532091	HNPCEpiC	eye:	n/a
19	chr5:117532041-117532091	T-47D	breast:	n/a
20	chr5:117532041-117532091	HUVEC	blood vessel:	n/a
21	chr5:117532041-117532091	GM12891	blood:	n/a
22	chr5:117532041-117532091	GM12878	blood:	n/a
23	chr5:117532041-117532091	Hela-S3	cervix:	n/a
24	chr5:117532041-117532091	ProgFib	skin:	n/a
25	chr5:117532041-117532091	AG09309	skin:	n/a
26	chr5:117532041-117532091	IMR90	lung:	fetal
27	chr5:117532041-117532091	MCF10A-Er-Src	breast:	n/a
28	chr5:117532041-117532091	NHDF-neo	bronchial:	n/a
29	chr5:117532041-117532091	Caco-2	colon:	n/a
30	chr5:117532041-117532091	HAEpiC	amniotic membrane:	n/a
31	chr5:117532041-117532091	HRE	kidney:	n/a
32	chr5:117532041-117532091	RPTEC	kidney:	n/a
33	chr5:117532041-117532091	U87	brain:	n/a
34	chr5:117532041-117532091	Hepatocyte	liver:	n/a
35	chr5:117532041-117532091	HEEpiC	esophagus:	n/a
36	chr5:117532041-117532091	HL-60	blood:	n/a
37	chr5:117532041-117532091	AG04450	lung:	fetal
38	chr5:117532041-117532091	NHBE	bronchial:	n/a
39	chr5:117532041-117532091	AoSMC	blood vessel:	n/a
40	chr5:117532041-117532091	ovcar-3	ovarian:	n/a
41	chr5:117532041-117532091	PANC-1	pancreas:	n/a
42	chr5:117532041-117532091	SAEC	small airway:	n/a
43	chr5:117532041-117532091	HepG2	liver:	n/a
44	chr5:117532041-117532091	SK-N-SH	brain:	n/a
45	chr5:117532041-117532091	NH-A	brain:	n/a
46	chr5:117532041-117532091	HPAEpiC	pulmonary alveolar:	n/a
47	chr5:117532041-117532091	Jurkat	blood:	n/a
48	chr5:117532041-117532091	AG09319	gingival:	n/a
49	chr5:117532041-117532091	AG10803	skin:	n/a
50	chr5:117532041-117532091	SKMC	muscle:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-4	chr5:117523162-117523286	XLOC_004524
2	lnc-DMXL1-4	chr5:117523160-117523290	XLOC_004524
3	lnc-DMXL1-4	chr5:117523161-117523286	XLOC_004524

No data

Variant related genes	Relation type
ENSG00000249797	TF binding region
ENSG00000249797	CpG island

Extended variants
information (count: 308 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148886256	chr5:117518064-117518065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532429500	chr5:117518138-117518139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368042013	chr5:117518139-117518140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143540100	chr5:117518153-117518154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371806380	chr5:117518162-117518163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146831615	chr5:117518179-117518180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552558694	chr5:117518182-117518183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572751714	chr5:117518284-117518285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541458672	chr5:117518339-117518340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375148252	chr5:117518389-117518390	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs147641023	chr5:117518423-117518424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10066475	chr5:117518432-117518433	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548279091	chr5:117518879-117518880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376818276	chr5:117518927-117518928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73246751	chr5:117518968-117518969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550783882	chr5:117519018-117519019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570676606	chr5:117519088-117519089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11739202	chr5:117519113-117519114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145671772	chr5:117519137-117519138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138220017	chr5:117519138-117519139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186386610	chr5:117519185-117519186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141824475	chr5:117519196-117519197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369102589	chr5:117519280-117519281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55955007	chr5:117519341-117519342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56210549	chr5:117519344-117519345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575322990	chr5:117519348-117519349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544292652	chr5:117519355-117519356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190493668	chr5:117519361-117519362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77837906	chr5:117519397-117519398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540424109	chr5:117519406-117519407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113969018	chr5:117519428-117519429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571337390	chr5:117519431-117519432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35844129	chr5:117519436-117519437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150274479	chr5:117519443-117519444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542234893	chr5:117519445-117519446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1382720	chr5:117519487-117519488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546717454	chr5:117519513-117519514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561907133	chr5:117519520-117519521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530927310	chr5:117519526-117519527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78250130	chr5:117519544-117519545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564237971	chr5:117519648-117519649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373933378	chr5:117519663-117519664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529096483	chr5:117519669-117519670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546863682	chr5:117519670-117519671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567184305	chr5:117519702-117519703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377644377	chr5:117519710-117519711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138935032	chr5:117519779-117519780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568721556	chr5:117519783-117519784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79451666	chr5:117519801-117519802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553095806	chr5:117519804-117519805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117518000-117518200	Enhancers	Fetal Lung	lung
2	chr5:117518000-117518400	Enhancers	Brain Germinal Matrix	brain
3	chr5:117518800-117520200	Weak transcription	Fetal Lung	lung
4	chr5:117520200-117520600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:117520200-117521400	Enhancers	Fetal Lung	lung
6	chr5:117520400-117521000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:117520600-117521000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:117520600-117521200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:117520800-117521200	Enhancers	Ovary	ovary
10	chr5:117523000-117523400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:117525200-117525800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:117529000-117529800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:117529400-117529800	Enhancers	Colon Smooth Muscle	Colon
14	chr5:117529800-117530800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:117529800-117531000	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:117530600-117531400	Enhancers	Liver	Liver
17	chr5:117530600-117532200	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:117530800-117531000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:117530800-117531000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:117530800-117531200	Active TSS	Right Atrium	heart
21	chr5:117530800-117531400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:117531000-117531200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:117531000-117531200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:117531000-117531200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:117531000-117531600	Enhancers	Colon Smooth Muscle	Colon
26	chr5:117531200-117531400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:117531200-117531400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:117531200-117531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:117531200-117534200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:117531400-117534800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:117531800-117533000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:117531800-117533200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:117532000-117532800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:117532200-117533600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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