Variant report

Variant	nsv882738
Chromosome Location	chr5:115315128-115324915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:62)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:115316893-115317171	GM12878	blood:	n/a	n/a
2	BHLHE40	chr5:115317842-115317997	K562	blood:	n/a	n/a
3	CEBPB	chr5:115316660-115316832	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:115316689-115316829	A549	lung:	n/a	n/a
5	CEBPB	chr5:115315220-115315653	IMR90	lung:	n/a	n/a
6	CEBPB	chr5:115316692-115316850	K562	blood:	n/a	n/a
7	CTCF	chr5:115315560-115315710	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr5:115315760-115315910	AG10803	skin:	n/a	n/a
9	E2F4	chr5:115320227-115320276	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr5:115319300-115319520	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr5:115321987-115322345	T-47D	breast:	n/a	n/a
12	FOS	chr5:115315261-115315560	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr5:115316453-115316579	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr5:115322033-115322973	HUVEC	blood vessel:	n/a	chr5:115322941-115322950 chr5:115322557-115322566
15	GATA2	chr5:115321866-115322476	HUVEC	blood vessel:	n/a	n/a
16	GATA2	chr5:115319039-115319563	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr5:115321916-115322375	T-47D	breast:	n/a	n/a
18	GATA3	chr5:115321928-115322343	T-47D	breast:	n/a	n/a
19	GATA3	chr5:115319033-115319762	SH-SY5Y	brain:	n/a	n/a
20	IRF1	chr5:115319761-115319878	K562	blood:	n/a	n/a
21	JUND	chr5:115317033-115317209	HepG2	liver:	n/a	chr5:115317082-115317093
22	MAFF	chr5:115320055-115320064	K562	blood:	n/a	n/a
23	MAFK	chr5:115314485-115315134	IMR90	lung:	n/a	chr5:115314668-115314683
24	MAX	chr5:115323702-115323902	NB4	blood:	n/a	chr5:115323830-115323840
25	MAZ	chr5:115321276-115321312	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:115319643-115319653	MCF10A-Er-Src	breast:	n/a	n/a
27	RUNX3	chr5:115316971-115317196	GM12878	blood:	n/a	n/a
28	RUNX3	chr5:115316963-115317262	GM12878	blood:	n/a	n/a
29	STAT3	chr5:115315358-115315502	MCF10A-Er-Src	breast:	n/a	n/a
30	ZNF263	chr5:115320470-115320889	HEK293-T-REx	kidney:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:115322511-115322561	NB4	blood:	n/a
2	chr5:115322511-115322561	NB4	blood:	n/a
3	chr5:115322511-115322561	AG04450	lung:	fetal
4	chr5:115322511-115322561	HRE	kidney:	n/a
5	chr5:115322511-115322561	HCT-116	colon:	n/a
6	chr5:115322511-115322561	NH-A	brain:	n/a
7	chr5:115322511-115322561	HCPEpiC	choroid plexus:	n/a
8	chr5:115322511-115322561	RPTEC	kidney:	n/a
9	chr5:115322511-115322561	SK-N-SH_RA	brain:	n/a
10	chr5:115322511-115322561	NT2-D1	testis:	n/a
11	chr5:115322511-115322561	ovcar-3	ovarian:	n/a
12	chr5:115322511-115322561	GM06990	blood:	n/a
13	chr5:115322511-115322561	ProgFib	skin:	n/a
14	chr5:115322511-115322561	AG10803	skin:	n/a
15	chr5:115322511-115322561	SAEC	small airway:	n/a
16	chr5:115322511-115322561	HEK293	kidney:	embryo
17	chr5:115322511-115322561	AG04449	skin:	fetal
18	chr5:115322511-115322561	GM12878	blood:	n/a
19	chr5:115322511-115322561	A549	lung:	n/a
20	chr5:115322511-115322561	HUVEC	blood vessel:	n/a
21	chr5:115322511-115322561	HAEpiC	amniotic membrane:	n/a
22	chr5:115322511-115322561	AG09309	skin:	n/a
23	chr5:115322511-115322561	AoSMC	blood vessel:	n/a
24	chr5:115322511-115322561	T-47D	breast:	n/a
25	chr5:115322511-115322561	ECC-1	luminal epithelium:	n/a
26	chr5:115322511-115322561	NHDF-neo	bronchial:	n/a
27	chr5:115322511-115322561	HRCEpiC	kidney:	n/a
28	chr5:115322511-115322561	PrEC	prostate:	n/a
29	chr5:115322511-115322561	HCM	heart:	n/a
30	chr5:115322511-115322561	BE2_C	brain:	n/a
31	chr5:115322511-115322561	HL-60	blood:	n/a
32	chr5:115322511-115322561	Caco-2	colon:	n/a
33	chr5:115322511-115322561	GM12892	blood:	n/a
34	chr5:115322511-115322561	GM19239	blood:	n/a
35	chr5:115322511-115322561	HIPEpiC	eye:	n/a
36	chr5:115322511-115322561	HepG2	liver:	n/a
37	chr5:115322511-115322561	AG09319	gingival:	n/a
38	chr5:115322511-115322561	PFSK-1	brain:	n/a
39	chr5:115322511-115322561	MCF10A-Er-Src	breast:	n/a
40	chr5:115322511-115322561	HNPCEpiC	eye:	n/a
41	chr5:115322511-115322561	MCF-7	breast:	n/a
42	chr5:115322511-115322561	HMEC	breast:	n/a
43	chr5:115322511-115322561	LNCaP	prostate:	n/a
44	chr5:115322511-115322561	SKMC	muscle:	n/a
45	chr5:115322511-115322561	HCF	heart:	n/a
46	chr5:115322511-115322561	SK-N-SH	brain:	n/a
47	chr5:115322511-115322561	Jurkat	blood:	n/a
48	chr5:115322511-115322561	H1-hESC	embryonic stem cell:	embryo
49	chr5:115322511-115322561	NHBE	bronchial:	n/a
50	chr5:115322511-115322561	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:115311683..115315711-chr5:115317313..115319331,3	K562	blood:
2	chr5:115318449..115319995-chr5:115320033..115322882,2	MCF-7	breast:
3	chr5:115314211..115315757-chr5:115317313..115319872,2	K562	blood:
4	chr5:115314211..115315757-chr5:115317313..115319872,2	K562	blood:
5	chr5:115316121..115317825-chr5:115326867..115328575,2	K562	blood:
6	chr5:115318449..115319995-chr5:115320033..115322882,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248295	TF binding region
ENSG00000248295	CpG island
ENSG00000248295	chromatin interactions

Extended variants
information (count: 492 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10478266	chr5:115315128-115315129	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554148540	chr5:115315156-115315157	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573878169	chr5:115315161-115315162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138704312	chr5:115315164-115315165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556100565	chr5:115315169-115315170	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573926330	chr5:115315176-115315177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370357303	chr5:115315212-115315213	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545174233	chr5:115315218-115315219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565242509	chr5:115315232-115315233	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs1834941	chr5:115315234-115315235	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527722169	chr5:115315268-115315269	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541319264	chr5:115315293-115315294	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538551281	chr5:115315313-115315314	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs142769616	chr5:115315396-115315397	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs73783031	chr5:115315408-115315409	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375072090	chr5:115315475-115315476	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs147346549	chr5:115315518-115315519	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs117940218	chr5:115315520-115315521	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531392897	chr5:115315601-115315602	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535603537	chr5:115315608-115315609	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs139503075	chr5:115315615-115315616	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs57045976	chr5:115315630-115315631	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs17164367	chr5:115315676-115315677	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10519434	chr5:115315701-115315702	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567531549	chr5:115315706-115315707	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113877590	chr5:115315719-115315720	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556277910	chr5:115315726-115315727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs190978739	chr5:115315737-115315738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534735767	chr5:115315752-115315753	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149954748	chr5:115315754-115315755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs60897094	chr5:115315756-115315757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112591395	chr5:115315765-115315766	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs182754937	chr5:115315786-115315787	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs59298442	chr5:115315799-115315800	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574766500	chr5:115315803-115315804	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs188124866	chr5:115315819-115315820	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555549315	chr5:115315820-115315821	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs532637296	chr5:115315847-115315848	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs144097722	chr5:115315869-115315870	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs77037277	chr5:115315885-115315886	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs527263954	chr5:115315928-115315929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192848577	chr5:115315933-115315934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs17164372	chr5:115315944-115315945	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142150045	chr5:115315967-115315968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35582042	chr5:115315969-115315970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549536740	chr5:115315975-115315976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549848030	chr5:115316015-115316016	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141288145	chr5:115316048-115316049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538482446	chr5:115316055-115316056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558992885	chr5:115316064-115316065	Weak transcription Enhancers Flanking Active TSS	n/a	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
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Depressive disorder	21152026	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115312200-115317200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:115312600-115315200	Enhancers	HUVEC	blood vessel
3	chr5:115312800-115315200	Enhancers	Fetal Muscle Leg	muscle
4	chr5:115313000-115316200	Enhancers	Adipose Nuclei	Adipose
5	chr5:115313000-115316200	Enhancers	NHDF-Ad	bronchial
6	chr5:115313000-115316800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:115313200-115315600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:115313200-115316000	Enhancers	Osteobl	bone
9	chr5:115313200-115316400	Enhancers	Ovary	ovary
10	chr5:115313800-115315800	Enhancers	Fetal Lung	lung
11	chr5:115313800-115316200	Enhancers	NHLF	lung
12	chr5:115313800-115317200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:115314000-115315800	Enhancers	Fetal Kidney	kidney
14	chr5:115314000-115316200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:115314200-115315200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:115314200-115315800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:115314200-115316600	Enhancers	GM12878-XiMat	blood
18	chr5:115314600-115316200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:115314600-115316400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:115314800-115315200	Enhancers	Placenta	Placenta
21	chr5:115314800-115315800	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:115314800-115317000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:115315000-115315800	Enhancers	Fetal Stomach	stomach
24	chr5:115315200-115316400	Weak transcription	HUVEC	blood vessel
25	chr5:115315200-115321800	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:115315600-115316000	Enhancers	Rectal Smooth Muscle	rectum
27	chr5:115315800-115316000	Enhancers	Colon Smooth Muscle	Colon
28	chr5:115315800-115319400	Weak transcription	Fetal Lung	lung
29	chr5:115316000-115316800	Weak transcription	Osteobl	bone
30	chr5:115316200-115316800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:115316200-115320200	Weak transcription	Adipose Nuclei	Adipose
32	chr5:115316400-115316800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:115316400-115316800	Enhancers	HUVEC	blood vessel
34	chr5:115316400-115317600	Weak transcription	Ovary	ovary
35	chr5:115316800-115317000	Enhancers	Osteobl	bone
36	chr5:115316800-115320200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:115316800-115321600	Weak transcription	HUVEC	blood vessel
38	chr5:115317000-115321400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:115317200-115317600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:115317200-115321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:115317600-115318000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:115317600-115318200	Enhancers	Ovary	ovary
43	chr5:115318200-115319200	Weak transcription	Ovary	ovary
44	chr5:115319200-115319800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:115319200-115320000	Enhancers	Ovary	ovary
46	chr5:115319400-115323400	Enhancers	Fetal Lung	lung
47	chr5:115320000-115320800	Weak transcription	Ovary	ovary
48	chr5:115320200-115320800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:115320200-115322200	Strong transcription	Adipose Nuclei	Adipose
50	chr5:115320400-115320600	Weak transcription	Pancreas	Pancrea

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