Variant report

Variant	nsv510768
Chromosome Location	chr19:43217357-43299363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1264)
CpG islands
(count:795)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1264 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:43246213-43246502	GM12878	blood:	n/a	n/a
2	BATF	chr19:43271446-43271728	GM12878	blood:	n/a	n/a
3	BCL3	chr19:43297507-43298116	A549	lung:	n/a	n/a
4	BRCA1	chr19:43297623-43297950	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr19:43265411-43265577	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr19:43265183-43265848	IMR90	lung:	n/a	n/a
7	CEBPB	chr19:43265127-43265827	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr19:43239891-43240238	IMR90	lung:	n/a	n/a
9	CEBPB	chr19:43239908-43240549	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr19:43297755-43297993	A549	lung:	n/a	n/a
11	CEBPB	chr19:43297691-43297991	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr19:43271400-43271550	GM12865	blood:	n/a	n/a
13	CTCF	chr19:43246160-43246310	GM06990	blood:	n/a	n/a
14	CTCF	chr19:43294752-43294794	GM13976	blood:	n/a	n/a
15	CTCF	chr19:43271860-43272010	A549	lung:	n/a	n/a
16	CTCF	chr19:43281300-43281450	MCF-7	breast:	n/a	n/a
17	CTCF	chr19:43297740-43297890	AG04450	lung:	n/a	n/a
18	CTCF	chr19:43281260-43281410	K562	blood:	n/a	n/a
19	CTCF	chr19:43262926-43263156	HepG2	liver:	n/a	n/a
20	CTCF	chr19:43245960-43246110	HRE	kidney:	n/a	chr19:43246062-43246080
21	CTCF	chr19:43281177-43281492	A549	lung:	n/a	n/a
22	CTCF	chr19:43246320-43246470	GM06990	blood:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
23	CTCF	chr19:43246280-43246430	MCF-7	breast:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
24	CTCF	chr19:43246260-43246410	GM12875	blood:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
25	CTCF	chr19:43295460-43295610	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr19:43297715-43297808	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr19:43281280-43281430	HMEC	breast:	n/a	n/a
28	CTCF	chr19:43246300-43246450	Caco-2	colon:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
29	CTCF	chr19:43246160-43246310	HCM	heart:	n/a	n/a
30	CTCF	chr19:43262925-43263123	LNCaP	prostate:	n/a	n/a
31	CTCF	chr19:43237711-43238047	MCF-7	breast:	n/a	n/a
32	CTCF	chr19:43246277-43246421	SK-N-SH_RA	brain:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
33	CTCF	chr19:43246060-43246210	RPTEC	kidney:	n/a	chr19:43246062-43246080
34	CTCF	chr19:43262907-43263103	GM13976	blood:	n/a	n/a
35	CTCF	chr19:43246320-43246470	GM12873	blood:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
36	CTCF	chr19:43271400-43271550	GM12878	blood:	n/a	n/a
37	CTCF	chr19:43271497-43271703	MCF-7	breast:	n/a	chr19:43271592-43271601 chr19:43271586-43271604
38	CTCF	chr19:43295376-43295689	K562	blood:	n/a	n/a
39	CTCF	chr19:43281280-43281430	HepG2	liver:	n/a	n/a
40	CTCF	chr19:43237709-43238104	K562	blood:	n/a	n/a
41	CTCF	chr19:43246532-43246534	Medullo	brain:	n/a	n/a
42	CTCF	chr19:43262866-43263305	A549	lung:	n/a	n/a
43	CTCF	chr19:43256001-43256077	GM19240	blood:	n/a	n/a
44	CTCF	chr19:43246040-43246190	K562	blood:	n/a	chr19:43246062-43246080
45	CTCF	chr19:43246160-43246430	A549	lung:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
46	CTCF	chr19:43237558-43238187	A549	lung:	n/a	n/a
47	CTCF	chr19:43263060-43263210	HCM	heart:	n/a	n/a
48	CTCF	chr19:43246280-43246430	HCT-116	colon:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
49	CTCF	chr19:43281169-43281494	HepG2	liver:	n/a	n/a
50	CTCF	chr19:43246236-43246503	MCF-7	breast:	n/a	chr19:43246360-43246378 chr19:43246366-43246375

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:43244635-43244685	NT2-D1	testis:	n/a
2	chr19:43257346-43257396	HRPEpiC	eye:	n/a
3	chr19:43244635-43244685	NT2-D1	testis:	n/a
4	chr19:43257346-43257396	HRPEpiC	eye:	n/a
5	chr19:43244680-43244730	HL-60	blood:	n/a
6	chr19:43240516-43240566	NB4	blood:	n/a
7	chr19:43245921-43245971	NHDF-neo	bronchial:	n/a
8	chr19:43271112-43271162	HRPEpiC	eye:	n/a
9	chr19:43271058-43271108	PFSK-1	brain:	n/a
10	chr19:43269832-43269882	RPTEC	kidney:	n/a
11	chr19:43257346-43257396	SKMC	muscle:	n/a
12	chr19:43245921-43245971	GM12892	blood:	n/a
13	chr19:43257346-43257396	HepG2	liver:	n/a
14	chr19:43271112-43271162	GM12878	blood:	n/a
15	chr19:43244635-43244685	HEK293	kidney:	embryo
16	chr19:43245860-43245910	HRPEpiC	eye:	n/a
17	chr19:43244635-43244685	HMEC	breast:	n/a
18	chr19:43240516-43240566	HL-60	blood:	n/a
19	chr19:43227392-43227442	HepG2	liver:	n/a
20	chr19:43245860-43245910	AG04449	skin:	fetal
21	chr19:43245860-43245910	AoSMC	blood vessel:	n/a
22	chr19:43240516-43240566	ovcar-3	ovarian:	n/a
23	chr19:43244635-43244685	AG09309	skin:	n/a
24	chr19:43271112-43271162	K562	blood:	n/a
25	chr19:43244680-43244730	HCM	heart:	n/a
26	chr19:43265778-43265828	AoSMC	blood vessel:	n/a
27	chr19:43245921-43245971	PrEC	prostate:	n/a
28	chr19:43240516-43240566	RPTEC	kidney:	n/a
29	chr19:43245860-43245910	T-47D	breast:	n/a
30	chr19:43271112-43271162	SK-N-MC	brain:	n/a
31	chr19:43257346-43257396	GM12891	blood:	n/a
32	chr19:43269877-43269927	NB4	blood:	n/a
33	chr19:43245860-43245910	AG09319	gingival:	n/a
34	chr19:43244680-43244730	HMEC	breast:	n/a
35	chr19:43227392-43227442	HPAEpiC	pulmonary alveolar:	n/a
36	chr19:43245860-43245910	PANC-1	pancreas:	n/a
37	chr19:43245921-43245971	HCF	heart:	n/a
38	chr19:43271004-43271054	K562	blood:	n/a
39	chr19:43227392-43227442	AG10803	skin:	n/a
40	chr19:43240516-43240566	HNPCEpiC	eye:	n/a
41	chr19:43265778-43265828	MCF10A-Er-Src	breast:	n/a
42	chr19:43265778-43265828	PFSK-1	brain:	n/a
43	chr19:43240516-43240566	H1-hESC	embryonic stem cell:	embryo
44	chr19:43244635-43244685	HCF	heart:	n/a
45	chr19:43227392-43227442	GM12891	blood:	n/a
46	chr19:43245860-43245910	PFSK-1	brain:	n/a
47	chr19:43240516-43240566	NT2-D1	testis:	n/a
48	chr19:43269832-43269882	PANC-1	pancreas:	n/a
49	chr19:43245921-43245971	GM06990	blood:	n/a
50	chr19:43245860-43245910	PrEC	prostate:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:43197619..43198590-chr19:43246174..43246898,3	MCF-7	breast:
2	chr19:43197626..43198528-chr19:43245881..43246809,2	MCF-7	breast:
3	chr19:43197647..43198196-chr19:43280850..43281744,2	MCF-7	breast:
4	chr19:43297087..43297875-chr19:43423005..43423976,2	MCF-7	breast:
5	chr19:43265768..43266290-chr19:43769932..43770473,2	MCF-7	breast:
6	chr19:43139154..43139986-chr19:43246322..43246897,2	MCF-7	breast:
7	chr19:43197633..43198568-chr19:43280847..43281639,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSG8-1	chr19:43290505-43290747	NONHSAT066567
2	lnc-PSG8-1	chr19:43289879-43290117	NONHSAT066567
3	lnc-PSG3-1	chr19:43256843-43257528	NONHSAT066566
4	lnc-PSG8-1	chr19:43285358-43285449	NONHSAT066567
5	lnc-PSG3-1	chr19:43258485-43260276	NONHSAT066566

No data

Variant related genes	Relation type
PSG8	TF binding region
CEACAMP6	TF binding region
PSG3	TF binding region
PSG8	CpG island
CEACAMP6	CpG island
PSG3	CpG island
ENSG00000170848	chromatin interactions

Extended variants
information (count: 4411 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:4411 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148056663	chr19:43217358-43217359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534133102	chr19:43217368-43217369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375546755	chr19:43217376-43217377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141754816	chr19:43217394-43217395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541796237	chr19:43217397-43217398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150561290	chr19:43217435-43217436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575335965	chr19:43217439-43217440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544292761	chr19:43217447-43217448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184039077	chr19:43217468-43217469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577718097	chr19:43217477-43217478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186887432	chr19:43217503-43217504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560387777	chr19:43217517-43217518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529208917	chr19:43217535-43217536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548944440	chr19:43217576-43217577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562515884	chr19:43217592-43217593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138726736	chr19:43217593-43217594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551414119	chr19:43217624-43217625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571696793	chr19:43217627-43217628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534393975	chr19:43217654-43217655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192539327	chr19:43217672-43217673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10407027	chr19:43217683-43217684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142729959	chr19:43217687-43217688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575274367	chr19:43217693-43217694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537845526	chr19:43217705-43217706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369032005	chr19:43217723-43217724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557885777	chr19:43217756-43217757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147355659	chr19:43217778-43217779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540407669	chr19:43217785-43217786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115600094	chr19:43217805-43217806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139421520	chr19:43217808-43217809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542479599	chr19:43217810-43217811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562445871	chr19:43217825-43217826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112216394	chr19:43217864-43217865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2190763	chr19:43217865-43217866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185601970	chr19:43217880-43217881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149871913	chr19:43217894-43217895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377333627	chr19:43217917-43217918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373212235	chr19:43217928-43217929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547890373	chr19:43217967-43217968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567722343	chr19:43217968-43217969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144857112	chr19:43217988-43217989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575366495	chr19:43218006-43218007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376557697	chr19:43218012-43218013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369197562	chr19:43218017-43218018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148585469	chr19:43218052-43218053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570412196	chr19:43218070-43218071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112184664	chr19:43218073-43218074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573199828	chr19:43218084-43218085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537833084	chr19:43218095-43218096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142925961	chr19:43218137-43218138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43216600-43217400	Enhancers	Placenta	Placenta
2	chr19:43217400-43217800	Weak transcription	Placenta	Placenta
3	chr19:43217800-43218000	Enhancers	Placenta	Placenta
4	chr19:43218000-43227200	Weak transcription	Placenta	Placenta
5	chr19:43227200-43229200	Strong transcription	Placenta	Placenta
6	chr19:43229200-43233600	Weak transcription	Placenta	Placenta
7	chr19:43232400-43233600	Enhancers	Brain Hippocampus Middle	brain
8	chr19:43232600-43233200	Enhancers	Brain Cingulate Gyrus	brain
9	chr19:43232800-43233200	Enhancers	Brain Substantia Nigra	brain
10	chr19:43233200-43236800	Weak transcription	Brain Substantia Nigra	brain
11	chr19:43233600-43233800	Genic enhancers	Placenta	Placenta
12	chr19:43233800-43234200	Weak transcription	Placenta	Placenta
13	chr19:43234200-43235000	Genic enhancers	Placenta	Placenta
14	chr19:43235000-43236600	Weak transcription	Placenta	Placenta
15	chr19:43236600-43237600	Genic enhancers	Placenta	Placenta
16	chr19:43236800-43237200	Active TSS	Brain Substantia Nigra	brain
17	chr19:43237600-43238400	Weak transcription	Placenta	Placenta
18	chr19:43238400-43241600	Active TSS	Placenta	Placenta
19	chr19:43239000-43240400	Enhancers	NHDF-Ad	bronchial
20	chr19:43239000-43242200	Enhancers	Osteobl	bone
21	chr19:43239000-43242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr19:43239200-43242000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:43239400-43240400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:43239400-43242000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:43239400-43242200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:43239400-43242400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:43239400-43242400	Enhancers	HMEC	breast
28	chr19:43239400-43242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr19:43239800-43240400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:43239800-43242000	Enhancers	NH-A	brain
31	chr19:43239800-43242600	Enhancers	NHEK	skin
32	chr19:43240000-43240200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:43240000-43240200	Enhancers	HSMM	muscle
34	chr19:43240000-43240200	Enhancers	NHLF	lung
35	chr19:43240000-43241000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr19:43240000-43241200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:43240000-43242000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:43240200-43241000	Weak transcription	NHLF	lung
39	chr19:43240200-43241600	Weak transcription	HSMM	muscle
40	chr19:43240400-43240800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:43240400-43240800	Weak transcription	NHDF-Ad	bronchial
42	chr19:43240400-43241400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:43240400-43241800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:43240800-43242200	Enhancers	NHDF-Ad	bronchial
45	chr19:43240800-43242400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:43241000-43241400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:43241000-43242000	Enhancers	NHLF	lung
48	chr19:43241400-43242000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:43241400-43242200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr19:43241600-43242000	Enhancers	HSMM	muscle

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