Variant report

Variant	nsv881461
Chromosome Location	chr5:12507398-12575182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:122)
Chromatin interactive
region (count:18)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:12573954-12574062	K562	blood:	n/a	n/a
2	BHLHE40	chr5:12574678-12575143	K562	blood:	n/a	n/a
3	CBX3	chr5:12574582-12575256	K562	blood:	n/a	n/a
4	CCNT2	chr5:12574035-12574280	K562	blood:	n/a	n/a
5	CCNT2	chr5:12574667-12575084	K562	blood:	n/a	n/a
6	CEBPB	chr5:12575018-12575331	K562	blood:	n/a	n/a
7	CEBPB	chr5:12566667-12566990	HepG2	liver:	n/a	chr5:12566765-12566776
8	CEBPB	chr5:12566709-12566828	H1-hESC	embryonic stem cell:	n/a	chr5:12566765-12566776
9	CEBPB	chr5:12540762-12541082	HepG2	liver:	n/a	chr5:12540898-12540909
10	CEBPB	chr5:12566709-12566868	A549	lung:	n/a	chr5:12566765-12566776
11	CEBPB	chr5:12566600-12566907	Hela-S3	cervix:	n/a	chr5:12566765-12566776
12	CHD2	chr5:12574604-12575169	K562	blood:	n/a	n/a
13	CTCF	chr5:12535540-12535690	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:12573949-12574147	K562	blood:	n/a	n/a
15	CTCF	chr5:12541880-12542030	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr5:12574000-12574150	K562	blood:	n/a	n/a
17	CTCF	chr5:12510211-12510275	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:12530620-12530770	GM12864	blood:	n/a	n/a
19	CTCF	chr5:12574029-12574111	K562	blood:	n/a	n/a
20	CTCF	chr5:12538324-12538394	Lung_OC	lung:	n/a	n/a
21	CTCF	chr5:12532680-12532830	GM12867	blood:	n/a	n/a
22	E2F4	chr5:12522352-12522485	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr5:12566638-12566925	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr5:12570967-12571208	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F6	chr5:12574021-12574203	K562	blood:	n/a	n/a
26	E2F6	chr5:12574594-12575135	K562	blood:	n/a	chr5:12574962-12574973 chr5:12574947-12574958
27	E2F6	chr5:12574510-12575158	K562	blood:	n/a	chr5:12574962-12574973 chr5:12574947-12574958
28	E2F6	chr5:12574526-12575252	K562	blood:	n/a	chr5:12574962-12574973 chr5:12574947-12574958
29	EGR1	chr5:12573991-12574213	K562	blood:	n/a	n/a
30	EGR1	chr5:12574580-12575024	K562	blood:	n/a	n/a
31	EGR1	chr5:12574545-12574914	K562	blood:	n/a	n/a
32	ELF1	chr5:12574634-12575134	K562	blood:	n/a	chr5:12574920-12574933
33	ELF1	chr5:12574639-12575189	K562	blood:	n/a	chr5:12574920-12574933
34	ELK1	chr5:12574717-12575112	K562	blood:	n/a	n/a
35	EP300	chr5:12573055-12573209	GM12878	blood:	n/a	n/a
36	EP300	chr5:12574788-12574977	K562	blood:	n/a	n/a
37	EP300	chr5:12574704-12575037	T-47D	breast:	n/a	n/a
38	ETS1	chr5:12574653-12574905	GM12878	blood:	n/a	n/a
39	ETS1	chr5:12574770-12575099	K562	blood:	n/a	n/a
40	FOS	chr5:12566548-12566954	MCF10A-Er-Src	breast:	n/a	chr5:12566712-12566720
41	FOS	chr5:12526253-12526596	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr5:12522180-12522843	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr5:12526247-12526613	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr5:12526251-12526601	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr5:12522165-12522630	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr5:12522177-12522860	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr5:12566586-12566948	MCF10A-Er-Src	breast:	n/a	chr5:12566712-12566720
48	FOS	chr5:12522204-12522606	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr5:12526266-12526598	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr5:12566548-12566950	MCF10A-Er-Src	breast:	n/a	chr5:12566712-12566720

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:12574872-12574922	GM06990	blood:	n/a
2	chr5:12574872-12574922	HepG2	liver:	n/a
3	chr5:12574872-12574922	ovcar-3	ovarian:	n/a
4	chr5:12574688-12574738	Hela-S3	cervix:	n/a
5	chr5:12574872-12574922	BJ	skin:	n/a
6	chr5:12574872-12574922	MCF-7	breast:	n/a
7	chr5:12574688-12574738	AG09309	skin:	n/a
8	chr5:12574688-12574738	IMR90	lung:	fetal
9	chr5:12574872-12574922	HIPEpiC	eye:	n/a
10	chr5:12574872-12574922	LNCaP	prostate:	n/a
11	chr5:12574872-12574922	BE2_C	brain:	n/a
12	chr5:12574872-12574922	H1-hESC	embryonic stem cell:	embryo
13	chr5:12574688-12574738	HepG2	liver:	n/a
14	chr5:12574688-12574738	PrEC	prostate:	n/a
15	chr5:12574688-12574738	Jurkat	blood:	n/a
16	chr5:12574872-12574922	PANC-1	pancreas:	n/a
17	chr5:12574688-12574738	AG04450	lung:	fetal
18	chr5:12574872-12574922	GM19239	blood:	n/a
19	chr5:12574872-12574922	AG09319	gingival:	n/a
20	chr5:12574872-12574922	GM12878	blood:	n/a
21	chr5:12574872-12574922	Jurkat	blood:	n/a
22	chr5:12574688-12574738	A549	lung:	n/a
23	chr5:12574872-12574922	GM12892	blood:	n/a
24	chr5:12574688-12574738	SK-N-SH	brain:	n/a
25	chr5:12574872-12574922	SK-N-MC	brain:	n/a
26	chr5:12574872-12574922	HCF	heart:	n/a
27	chr5:12574872-12574922	Caco-2	colon:	n/a
28	chr5:12574872-12574922	HUVEC	blood vessel:	n/a
29	chr5:12574688-12574738	AG10803	skin:	n/a
30	chr5:12574872-12574922	HCT-116	colon:	n/a
31	chr5:12574872-12574922	NT2-D1	testis:	n/a
32	chr5:12574872-12574922	NHDF-neo	bronchial:	n/a
33	chr5:12574688-12574738	AG09319	gingival:	n/a
34	chr5:12574688-12574738	MCF-7	breast:	n/a
35	chr5:12574688-12574738	HEK293	kidney:	embryo
36	chr5:12574872-12574922	ECC-1	luminal epithelium:	n/a
37	chr5:12574688-12574738	U87	brain:	n/a
38	chr5:12574872-12574922	K562	blood:	n/a
39	chr5:12574688-12574738	HPAEpiC	pulmonary alveolar:	n/a
40	chr5:12574688-12574738	Caco-2	colon:	n/a
41	chr5:12574872-12574922	IMR90	lung:	fetal
42	chr5:12574872-12574922	HRCEpiC	kidney:	n/a
43	chr5:12574872-12574922	HAEpiC	amniotic membrane:	n/a
44	chr5:12574872-12574922	AG09309	skin:	n/a
45	chr5:12574872-12574922	HL-60	blood:	n/a
46	chr5:12574688-12574738	HCPEpiC	choroid plexus:	n/a
47	chr5:12574688-12574738	GM19239	blood:	n/a
48	chr5:12574872-12574922	HCM	heart:	n/a
49	chr5:12574872-12574922	Hepatocyte	liver:	n/a
50	chr5:12574688-12574738	HUVEC	blood vessel:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12554220..12555829-chr5:12556078..12558191,2	MCF-7	breast:
2	chr5:12562087..12563726-chr5:12565679..12568553,2	K562	blood:
3	chr5:12546310..12548435-chr5:12549138..12551097,2	K562	blood:
4	chr5:12546310..12548435-chr5:12549138..12551097,2	K562	blood:
5	chr5:12566855..12569678-chr5:12570834..12573967,4	MCF-7	breast:
6	chr5:12542323..12544151-chr5:12547320..12550095,2	K562	blood:
7	chr5:12537002..12539656-chr5:12586201..12588814,2	K562	blood:
8	chr5:12562087..12563881-chr5:12566086..12568996,3	K562	blood:
9	chr5:12557146..12558747-chr5:12560771..12562482,2	K562	blood:
10	chr5:12542323..12544151-chr5:12547320..12550095,2	K562	blood:
11	chr5:12562087..12563726-chr5:12565679..12568553,2	K562	blood:
12	chr5:12566855..12569678-chr5:12570834..12573967,4	MCF-7	breast:
13	chr5:12554220..12555829-chr5:12556078..12558191,2	MCF-7	breast:
14	chr5:12572185..12574233-chr5:12590584..12592577,2	K562	blood:
15	chr5:12569399..12571855-chr5:12571987..12574855,2	K562	blood:
16	chr5:12557146..12558747-chr5:12560771..12562482,2	K562	blood:
17	chr5:12562087..12563881-chr5:12566086..12568996,3	K562	blood:
18	chr5:12560874..12562617-chr5:12573988..12576942,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIO-4	chr5:12574969-12575164	NONHSAT100511
2	lnc-TRIO-4	chr5:12574969-12575164	ENSG00000248131
3	lnc-TRIO-4	chr5:12574969-12575164	NONHSAT100514
4	lnc-TRIO-4	chr5:12574969-12575164	ENSG00000248131
5	lnc-TRIO-4	chr5:12574969-12575164	ENSG00000248131

No data

Variant related genes	Relation type
ENSG00000248783	TF binding region
CT49	TF binding region
ENSG00000248783	CpG island
CT49	CpG island
ENSG00000248131	chromatin interactions
ENSG00000248783	chromatin interactions
ABL2	miRNA target sites
PSMD7	miRNA target sites
ARHGEF7	miRNA target sites

Extended variants
information (count: 1227 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12653370	chr5:12507398-12507399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573199406	chr5:12507612-12507613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570826115	chr5:12507650-12507651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540673505	chr5:12507652-12507653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565375642	chr5:12507692-12507693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79272995	chr5:12507726-12507727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79884818	chr5:12507728-12507729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532682961	chr5:12507747-12507748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551587383	chr5:12507777-12507778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563516473	chr5:12507801-12507802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530691221	chr5:12507803-12507804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370683738	chr5:12507810-12507811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192327312	chr5:12507825-12507826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75706396	chr5:12507829-12507830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567107849	chr5:12507831-12507832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534307721	chr5:12507832-12507833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375047931	chr5:12507880-12507881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183820198	chr5:12507890-12507891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74741440	chr5:12507937-12507938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77373017	chr5:12507947-12507948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79894672	chr5:12507962-12507963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79801462	chr5:12507996-12507997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142817497	chr5:12508000-12508001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538062631	chr5:12508006-12508007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75276931	chr5:12508009-12508010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188843665	chr5:12508020-12508021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76423258	chr5:12508033-12508034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557239219	chr5:12508054-12508055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191491123	chr5:12508088-12508089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182653589	chr5:12508095-12508096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187072511	chr5:12508124-12508125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147396418	chr5:12508126-12508127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199992086	chr5:12508130-12508131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540610945	chr5:12508133-12508134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139203453	chr5:12508135-12508136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200916771	chr5:12508142-12508143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577380245	chr5:12508151-12508152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34649753	chr5:12508156-12508157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116060598	chr5:12508199-12508200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563295581	chr5:12508213-12508214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370924782	chr5:12508249-12508250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548945191	chr5:12508257-12508258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561231134	chr5:12508274-12508275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373574021	chr5:12508283-12508284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571052751	chr5:12508284-12508285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546170800	chr5:12508317-12508318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570926761	chr5:12508396-12508397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532049219	chr5:12508414-12508415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568144315	chr5:12508447-12508448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535674113	chr5:12508468-12508469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
lymphocytic leukemia	21291569	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	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12504600-12507400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:12507200-12507400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:12507600-12522400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:12509800-12511800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:12532200-12532800	ZNF genes & repeats	Pancreas	Pancrea
6	chr5:12535400-12535600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:12535600-12535800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:12562600-12569200	Weak transcription	Placenta	Placenta
9	chr5:12565600-12570400	Weak transcription	K562	blood
10	chr5:12567600-12568200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:12569200-12570800	Strong transcription	Placenta	Placenta
12	chr5:12570400-12572400	Strong transcription	K562	blood
13	chr5:12570800-12573800	Weak transcription	Placenta	Placenta
14	chr5:12572400-12573000	Weak transcription	K562	blood
15	chr5:12573000-12576200	Active TSS	K562	blood
16	chr5:12573800-12575400	Active TSS	Placenta	Placenta

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