Variant report

Variant	nsv597172
Chromosome Location	chr5:12787094-12819525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:429)
Chromatin interactive
region (count:10)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:12791862-12792048	GM12878	blood:	n/a	n/a
2	CCNT2	chr5:12808646-12808850	K562	blood:	n/a	n/a
3	CTCF	chr5:12804202-12804206	LNCaP	prostate:	n/a	n/a
4	CTCF	chr5:12816520-12816670	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr5:12807180-12807330	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr5:12804095-12804201	LNCaP	prostate:	n/a	n/a
7	CTCF	chr5:12804029-12804221	K562	blood:	n/a	n/a
8	CTCF	chr5:12804117-12804169	LNCaP	prostate:	n/a	n/a
9	CTCF	chr5:12803980-12804130	MCF-7	breast:	n/a	n/a
10	CTCF	chr5:12805460-12805610	GM12865	blood:	n/a	n/a
11	EBF1	chr5:12791949-12791977	GM12878	blood:	n/a	n/a
12	ELF1	chr5:12805239-12805700	MCF-7	breast:	n/a	n/a
13	EP300	chr5:12808121-12808124	K562	blood:	n/a	n/a
14	FOXA1	chr5:12805536-12805744	T-47D	breast:	n/a	n/a
15	GABPA	chr5:12805221-12805686	MCF-7	breast:	n/a	n/a
16	IRF1	chr5:12800246-12800272	K562	blood:	n/a	n/a
17	JUN	chr5:12795973-12796234	HepG2	liver:	n/a	chr5:12796116-12796125 chr5:12796112-12796125
18	JUND	chr5:12795966-12796258	HepG2	liver:	n/a	chr5:12796116-12796125
19	MAFF	chr5:12793392-12793866	HepG2	liver:	n/a	chr5:12793676-12793694
20	MAFF	chr5:12796230-12796654	HepG2	liver:	n/a	n/a
21	MAFF	chr5:12793509-12793855	K562	blood:	n/a	chr5:12793676-12793694
22	MAFF	chr5:12796506-12796577	K562	blood:	n/a	n/a
23	MAFK	chr5:12796150-12796664	HepG2	liver:	n/a	chr5:12796250-12796264 chr5:12796251-12796266 chr5:12796251-12796262
24	MAFK	chr5:12796221-12796561	IMR90	lung:	n/a	chr5:12796250-12796264 chr5:12796251-12796266 chr5:12796251-12796262
25	MAFK	chr5:12793505-12793873	HepG2	liver:	n/a	chr5:12793679-12793699
26	MAFK	chr5:12793535-12793861	K562	blood:	n/a	chr5:12793679-12793699
27	MAFK	chr5:12817985-12818174	Hela-S3	cervix:	n/a	n/a
28	MAFK	chr5:12793506-12793839	Hela-S3	cervix:	n/a	chr5:12793679-12793699
29	MAFK	chr5:12793510-12793855	IMR90	lung:	n/a	chr5:12793679-12793699
30	MAFK	chr5:12796193-12796582	HepG2	liver:	n/a	chr5:12796250-12796264 chr5:12796251-12796266 chr5:12796251-12796262
31	MAFK	chr5:12818705-12818827	HepG2	liver:	n/a	chr5:12818768-12818778
32	MAFK	chr5:12793541-12793823	H1-hESC	embryonic stem cell:	n/a	chr5:12793679-12793699
33	MAFK	chr5:12800524-12800668	HepG2	liver:	n/a	chr5:12800586-12800600
34	MAFK	chr5:12793410-12793860	HepG2	liver:	n/a	chr5:12793679-12793699
35	MAX	chr5:12805352-12805874	MCF-7	breast:	n/a	n/a
36	MYC	chr5:12792332-12792356	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr5:12805603-12805609	MCF-7	breast:	n/a	n/a
38	MYC	chr5:12805505-12805510	MCF-7	breast:	n/a	n/a
39	MYC	chr5:12805528-12805758	MCF-7	breast:	n/a	n/a
40	MYC	chr5:12805505-12805712	MCF-7	breast:	n/a	n/a
41	MYC	chr5:12795447-12795593	MCF-7	breast:	n/a	n/a
42	MYC	chr5:12805525-12805584	MCF-7	breast:	n/a	n/a
43	MYC	chr5:12805463-12805588	MCF-7	breast:	n/a	n/a
44	NFYA	chr5:12810633-12810899	Hela-S3	cervix:	n/a	n/a
45	NFYB	chr5:12796246-12796640	GM12878	blood:	n/a	chr5:12796358-12796373 chr5:12796383-12796398
46	NFYB	chr5:12796374-12796414	Hela-S3	cervix:	n/a	chr5:12796383-12796398
47	NFYB	chr5:12796209-12796793	K562	blood:	n/a	chr5:12796358-12796373 chr5:12796383-12796398
48	POLR2A	chr5:12805329-12805346	Gliobla	brain:	n/a	n/a
49	POLR2A	chr5:12802386-12802403	GM12878	blood:	n/a	n/a
50	POLR2A	chr5:12795202-12795269	MCF-7	breast:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:12795410-12795460	NB4	blood:	n/a
2	chr5:12795183-12795233	SK-N-SH_RA	brain:	n/a
3	chr5:12795410-12795460	NB4	blood:	n/a
4	chr5:12795183-12795233	SK-N-SH_RA	brain:	n/a
5	chr5:12794310-12794360	GM12878	blood:	n/a
6	chr5:12794800-12794850	SKMC	muscle:	n/a
7	chr5:12795410-12795460	MCF10A-Er-Src	breast:	n/a
8	chr5:12795705-12795755	SK-N-SH_RA	brain:	n/a
9	chr5:12795705-12795755	GM12892	blood:	n/a
10	chr5:12795705-12795755	H1-hESC	embryonic stem cell:	embryo
11	chr5:12795410-12795460	HCT-116	colon:	n/a
12	chr5:12795646-12795696	HEEpiC	esophagus:	n/a
13	chr5:12794800-12794850	T-47D	breast:	n/a
14	chr5:12794310-12794360	GM19239	blood:	n/a
15	chr5:12795410-12795460	MCF-7	breast:	n/a
16	chr5:12794310-12794360	AoSMC	blood vessel:	n/a
17	chr5:12794800-12794850	Hepatocyte	liver:	n/a
18	chr5:12795410-12795460	IMR90	lung:	fetal
19	chr5:12794310-12794360	HepG2	liver:	n/a
20	chr5:12795183-12795233	GM06990	blood:	n/a
21	chr5:12794800-12794850	HCT-116	colon:	n/a
22	chr5:12791029-12791079	U87	brain:	n/a
23	chr5:12794310-12794360	Hepatocyte	liver:	n/a
24	chr5:12791029-12791079	HRE	kidney:	n/a
25	chr5:12795646-12795696	AG04449	skin:	fetal
26	chr5:12795410-12795460	SKMC	muscle:	n/a
27	chr5:12795646-12795696	GM06990	blood:	n/a
28	chr5:12794800-12794850	PANC-1	pancreas:	n/a
29	chr5:12794800-12794850	ECC-1	luminal epithelium:	n/a
30	chr5:12795183-12795233	U87	brain:	n/a
31	chr5:12794800-12794850	Hela-S3	cervix:	n/a
32	chr5:12794310-12794360	HEK293	kidney:	embryo
33	chr5:12794310-12794360	HL-60	blood:	n/a
34	chr5:12795183-12795233	T-47D	breast:	n/a
35	chr5:12794310-12794360	IMR90	lung:	fetal
36	chr5:12794800-12794850	NH-A	brain:	n/a
37	chr5:12794310-12794360	SK-N-SH	brain:	n/a
38	chr5:12791029-12791079	SKMC	muscle:	n/a
39	chr5:12795410-12795460	Caco-2	colon:	n/a
40	chr5:12794310-12794360	H1-hESC	embryonic stem cell:	embryo
41	chr5:12794800-12794850	HAEpiC	amniotic membrane:	n/a
42	chr5:12795705-12795755	PrEC	prostate:	n/a
43	chr5:12795410-12795460	AoSMC	blood vessel:	n/a
44	chr5:12795183-12795233	GM12891	blood:	n/a
45	chr5:12795183-12795233	HEK293	kidney:	embryo
46	chr5:12794310-12794360	NH-A	brain:	n/a
47	chr5:12795705-12795755	ovcar-3	ovarian:	n/a
48	chr5:12791029-12791079	AG10803	skin:	n/a
49	chr5:12795410-12795460	BE2_C	brain:	n/a
50	chr5:12795410-12795460	GM06990	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12815455..12818211-chr5:12818393..12820982,3	MCF-7	breast:
2	chr5:12780362..12783052-chr5:12785644..12787505,2	K562	blood:
3	chr5:12272244..12273131-chr5:12803955..12804598,2	MCF-7	breast:
4	chr5:12794344..12796084-chr5:12809073..12810960,2	MCF-7	breast:
5	chr5:12790107..12792363-chr5:12800379..12802802,3	MCF-7	breast:
6	chr5:12790107..12792363-chr5:12800379..12802802,3	MCF-7	breast:
7	chr5:12660866..12661403-chr5:12804029..12804604,2	MCF-7	breast:
8	chr5:12815455..12818211-chr5:12818393..12820982,3	MCF-7	breast:
9	chr5:12810723..12813220-chr5:12814346..12816159,2	MCF-7	breast:
10	chr5:12810723..12813220-chr5:12814346..12816159,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTNND2-4	chr5:12794212-12794843	NONHSAT100518
2	lnc-TRIO-4	chr5:12804316-12804475	ENSG00000248131
3	lnc-TRIO-8	chr5:12794843-12795634	NONHSAT100519
4	lnc-TRIO-4	chr5:12805052-12805295	NONHSAT100511
5	lnc-TRIO-4	chr5:12805052-12805295	NONHSAT100514

No data

Variant related genes	Relation type
ENSG00000251112	TF binding region
ENSG00000249053	TF binding region
ENSG00000251112	CpG island
ENSG00000249053	CpG island
ENSG00000249053	chromatin interactions
PURA	miRNA target sites

Extended variants
information (count: 294 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148025058	chr5:12791030-12791031	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs542366306	chr5:12791801-12791802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs561497138	chr5:12791833-12791834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139468914	chr5:12791943-12791944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs142721017	chr5:12791953-12791954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565270015	chr5:12791989-12791990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552065914	chr5:12792054-12792055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567434400	chr5:12792334-12792335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556955414	chr5:12792537-12792538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546657352	chr5:12792581-12792582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575146490	chr5:12792584-12792585	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145111598	chr5:12792633-12792634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs147722713	chr5:12792668-12792669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532629461	chr5:12792879-12792880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535557474	chr5:12792955-12792956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544522597	chr5:12792970-12792971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562874600	chr5:12792986-12792987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530069587	chr5:12792991-12792992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376777599	chr5:12793047-12793048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113172740	chr5:12793089-12793090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566894969	chr5:12793129-12793130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140597943	chr5:12793170-12793171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576718997	chr5:12793181-12793182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371542946	chr5:12793194-12793195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145663566	chr5:12793199-12793200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146540307	chr5:12793216-12793217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560849481	chr5:12793219-12793220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556994737	chr5:12793258-12793259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559339020	chr5:12793278-12793279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370222191	chr5:12793381-12793382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370329426	chr5:12793397-12793398	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4608922	chr5:12793509-12793510	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535901783	chr5:12793528-12793529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs145040427	chr5:12793534-12793535	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs371366225	chr5:12793545-12793546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138037413	chr5:12793549-12793550	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs199511119	chr5:12793597-12793598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs149500093	chr5:12793600-12793601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs143127382	chr5:12793607-12793608	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs190086074	chr5:12793705-12793706	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs559712608	chr5:12793774-12793775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs193045200	chr5:12793813-12793814	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368425009	chr5:12793822-12793823	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375692565	chr5:12793823-12793824	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs4388211	chr5:12793840-12793841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530097212	chr5:12793886-12793887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541905998	chr5:12793921-12793922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574811122	chr5:12794027-12794028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560542392	chr5:12794070-12794071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374544142	chr5:12794074-12794075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12792800-12796000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:12794600-12794800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:12794800-12795000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:12794800-12795600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:12796000-12796600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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