Variant report

Variant	nsv964757
Chromosome Location	chr5:12795357-12803432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr5:12800246-12800272	K562	blood:	n/a	n/a
2	JUN	chr5:12795973-12796234	HepG2	liver:	n/a	chr5:12796116-12796125 chr5:12796112-12796125
3	JUND	chr5:12795966-12796258	HepG2	liver:	n/a	chr5:12796116-12796125
4	MAFF	chr5:12796506-12796577	K562	blood:	n/a	n/a
5	MAFF	chr5:12796230-12796654	HepG2	liver:	n/a	n/a
6	MAFK	chr5:12796221-12796561	IMR90	lung:	n/a	chr5:12796250-12796264 chr5:12796251-12796266 chr5:12796251-12796262
7	MAFK	chr5:12800524-12800668	HepG2	liver:	n/a	chr5:12800586-12800600
8	MAFK	chr5:12796193-12796582	HepG2	liver:	n/a	chr5:12796250-12796264 chr5:12796251-12796266 chr5:12796251-12796262
9	MAFK	chr5:12796150-12796664	HepG2	liver:	n/a	chr5:12796250-12796264 chr5:12796251-12796266 chr5:12796251-12796262
10	MYC	chr5:12795447-12795593	MCF-7	breast:	n/a	n/a
11	NFYB	chr5:12796374-12796414	Hela-S3	cervix:	n/a	chr5:12796383-12796398
12	NFYB	chr5:12796246-12796640	GM12878	blood:	n/a	chr5:12796358-12796373 chr5:12796383-12796398
13	NFYB	chr5:12796209-12796793	K562	blood:	n/a	chr5:12796358-12796373 chr5:12796383-12796398
14	POLR2A	chr5:12795317-12795502	MCF-7	breast:	n/a	n/a
15	POLR2A	chr5:12795619-12795623	A549	lung:	n/a	n/a
16	POLR2A	chr5:12795470-12795615	A549	lung:	n/a	n/a
17	POLR2A	chr5:12795368-12795630	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:12802386-12802403	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:12795416-12795427	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:12795410-12795460	HCF	heart:	n/a
2	chr5:12795646-12795696	PFSK-1	brain:	n/a
3	chr5:12795646-12795696	HCT-116	colon:	n/a
4	chr5:12795705-12795755	NT2-D1	testis:	n/a
5	chr5:12795646-12795696	HRPEpiC	eye:	n/a
6	chr5:12795705-12795755	AG09309	skin:	n/a
7	chr5:12795705-12795755	HRCEpiC	kidney:	n/a
8	chr5:12795705-12795755	AG04449	skin:	fetal
9	chr5:12795646-12795696	Hepatocyte	liver:	n/a
10	chr5:12795410-12795460	SK-N-SH_RA	brain:	n/a
11	chr5:12795410-12795460	AG04449	skin:	fetal
12	chr5:12795410-12795460	GM12892	blood:	n/a
13	chr5:12795410-12795460	HNPCEpiC	eye:	n/a
14	chr5:12795705-12795755	MCF-7	breast:	n/a
15	chr5:12795410-12795460	Caco-2	colon:	n/a
16	chr5:12795646-12795696	SK-N-SH	brain:	n/a
17	chr5:12795705-12795755	LNCaP	prostate:	n/a
18	chr5:12795646-12795696	NB4	blood:	n/a
19	chr5:12795646-12795696	CMK	blood:	n/a
20	chr5:12795646-12795696	LNCaP	prostate:	n/a
21	chr5:12795410-12795460	H1-hESC	embryonic stem cell:	embryo
22	chr5:12795410-12795460	K562	blood:	n/a
23	chr5:12795705-12795755	SAEC	small airway:	n/a
24	chr5:12795410-12795460	SK-N-SH	brain:	n/a
25	chr5:12795705-12795755	H1-hESC	embryonic stem cell:	embryo
26	chr5:12795646-12795696	U87	brain:	n/a
27	chr5:12795646-12795696	GM12878	blood:	n/a
28	chr5:12795410-12795460	NHDF-neo	bronchial:	n/a
29	chr5:12795646-12795696	SKMC	muscle:	n/a
30	chr5:12795705-12795755	HRPEpiC	eye:	n/a
31	chr5:12795646-12795696	NH-A	brain:	n/a
32	chr5:12795410-12795460	HAEpiC	amniotic membrane:	n/a
33	chr5:12795646-12795696	HAEpiC	amniotic membrane:	n/a
34	chr5:12795646-12795696	HCM	heart:	n/a
35	chr5:12795646-12795696	MCF10A-Er-Src	breast:	n/a
36	chr5:12795410-12795460	Jurkat	blood:	n/a
37	chr5:12795646-12795696	GM12892	blood:	n/a
38	chr5:12795646-12795696	ECC-1	luminal epithelium:	n/a
39	chr5:12795410-12795460	HRE	kidney:	n/a
40	chr5:12795705-12795755	HEEpiC	esophagus:	n/a
41	chr5:12795410-12795460	BJ	skin:	n/a
42	chr5:12795410-12795460	AoSMC	blood vessel:	n/a
43	chr5:12795705-12795755	SK-N-SH	brain:	n/a
44	chr5:12795410-12795460	RPTEC	kidney:	n/a
45	chr5:12795410-12795460	SK-N-MC	brain:	n/a
46	chr5:12795646-12795696	HPAEpiC	pulmonary alveolar:	n/a
47	chr5:12795410-12795460	Hepatocyte	liver:	n/a
48	chr5:12795410-12795460	ovcar-3	ovarian:	n/a
49	chr5:12795410-12795460	ProgFib	skin:	n/a
50	chr5:12795646-12795696	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:12790107..12792363-chr5:12800379..12802802,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIO-8	chr5:12794843-12795634	NONHSAT100519

No data

Variant related genes	Relation type
ENSG00000251112	TF binding region
ENSG00000251112	CpG island

Extended variants
information (count: 101 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528070155	chr5:12795378-12795379	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs185104631	chr5:12795383-12795384	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs371668246	chr5:12795394-12795395	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs560058530	chr5:12795397-12795398	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs527288598	chr5:12795416-12795417	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs534502495	chr5:12795433-12795434	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs375727089	chr5:12795455-12795456	Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs369011024	chr5:12795470-12795471	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs551710653	chr5:12795473-12795474	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs570123485	chr5:12795489-12795490	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs531275315	chr5:12795492-12795493	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs559278446	chr5:12795503-12795504	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs577432347	chr5:12795513-12795514	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs143707178	chr5:12795520-12795521	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs568538679	chr5:12795521-12795522	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs536078920	chr5:12795523-12795524	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs554495645	chr5:12795527-12795528	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs113825431	chr5:12795576-12795577	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs187955765	chr5:12795578-12795579	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs558139901	chr5:12795584-12795585	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs140497282	chr5:12795587-12795588	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs574787946	chr5:12795592-12795593	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs541912489	chr5:12795604-12795605	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs563490848	chr5:12795611-12795612	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs575077079	chr5:12795620-12795621	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs34863893	chr5:12795630-12795631	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377664785	chr5:12795632-12795633	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs541671573	chr5:12795633-12795634	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs559920800	chr5:12795635-12795636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527543125	chr5:12795647-12795648	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs150148698	chr5:12795649-12795650	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs563899604	chr5:12795658-12795659	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs138581447	chr5:12795670-12795671	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs113931511	chr5:12795697-12795698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147001962	chr5:12795716-12795717	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs529460946	chr5:12795724-12795725	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs376972004	chr5:12795743-12795744	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs546228999	chr5:12795819-12795820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182208975	chr5:12795821-12795822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs33984521	chr5:12795860-12795861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566284936	chr5:12795873-12795874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574504117	chr5:12795916-12795917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137909327	chr5:12795922-12795923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187242399	chr5:12795956-12795957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191721898	chr5:12795965-12795966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6862019	chr5:12795983-12795984	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs143867556	chr5:12795989-12795990	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574033651	chr5:12795991-12795992	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs183575843	chr5:12796034-12796035	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs553517787	chr5:12796085-12796086	ZNF genes & repeats	TF binding region	1 gene(s)	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:3 , 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	chr5:12794800-12795600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:12796000-12796600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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