Variant report

Variant	nsv521243
Chromosome Location	chr19:56742675-56752892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:56745875-56746197	GM12878	blood:	n/a	n/a
2	BRCA1	chr19:56745473-56745601	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr19:56744051-56744221	K562	blood:	n/a	n/a
4	CEBPB	chr19:56744025-56744198	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr19:56751816-56751907	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:56744790-56744871	GM20000	blood:	n/a	n/a
7	CTCF	chr19:56751740-56751890	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:56747369-56747409	GM10266	blood:	n/a	n/a
9	CTCF	chr19:56751780-56751930	HEK293	kidney:	n/a	n/a
10	CTCF	chr19:56751780-56751930	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr19:56751820-56751970	HepG2	liver:	n/a	n/a
12	FOXM1	chr19:56745873-56746178	GM12878	blood:	n/a	n/a
13	MAFK	chr19:56751693-56751718	HepG2	liver:	n/a	n/a
14	MAFK	chr19:56751658-56751687	HepG2	liver:	n/a	n/a
15	MAX	chr19:56749317-56749436	H1-hESC	embryonic stem cell:	n/a	n/a
16	NFIC	chr19:56745797-56746224	GM12878	blood:	n/a	n/a
17	PAX5	chr19:56745977-56746128	GM12878	blood:	n/a	n/a
18	PAX5	chr19:56745976-56746187	GM12878	blood:	n/a	n/a
19	PAX5	chr19:56745889-56746198	GM12878	blood:	n/a	n/a
20	PAX5	chr19:56745957-56746243	GM12878	blood:	n/a	n/a
21	PBX3	chr19:56746022-56746158	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:56742148-56742869	K562	blood:	n/a	n/a
23	POLR2A	chr19:56746097-56746189	K562	blood:	n/a	n/a
24	POLR2A	chr19:56749417-56749519	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:56746036-56746248	GM12878	blood:	n/a	n/a
26	REST	chr19:56746390-56746513	HepG2	liver:	n/a	n/a
27	REST	chr19:56746352-56746635	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56750344..56752392-chr19:56783866..56786080,2	K562	blood:

No data

Variant related genes	Relation type
ZSCAN5D	TF binding region
ZSCAN5A	TF binding region
ENSG00000267710	chromatin interactions

Extended variants
information (count: 551 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8111984	chr19:56742675-56742676	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530258601	chr19:56742718-56742719	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545219757	chr19:56742744-56742745	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138137005	chr19:56742745-56742746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187007390	chr19:56742762-56742763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs537252712	chr19:56742804-56742805	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs141933041	chr19:56742865-56742866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114348658	chr19:56742915-56742916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58082843	chr19:56743018-56743019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs55780349	chr19:56743060-56743061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573459098	chr19:56743070-56743071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545266916	chr19:56743078-56743079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2195974	chr19:56743097-56743098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs377173549	chr19:56743117-56743118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575390449	chr19:56743125-56743126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2195975	chr19:56743140-56743141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11666250	chr19:56743157-56743158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530172577	chr19:56743202-56743203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374730349	chr19:56743243-56743244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142995082	chr19:56743255-56743256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560260792	chr19:56743257-56743258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2217668	chr19:56743280-56743281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551660941	chr19:56743332-56743333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58374777	chr19:56743351-56743352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59717671	chr19:56743356-56743357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12974469	chr19:56743360-56743361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57370067	chr19:56743365-56743366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76052833	chr19:56743366-56743367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59525392	chr19:56743374-56743375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78689140	chr19:56743379-56743380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571568763	chr19:56743477-56743478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530721934	chr19:56743480-56743481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193158966	chr19:56743481-56743482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535990052	chr19:56743499-56743500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553053050	chr19:56743506-56743507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112392160	chr19:56743563-56743564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538254934	chr19:56743589-56743590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140078382	chr19:56743617-56743618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185359095	chr19:56743649-56743650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544388635	chr19:56743651-56743652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10404583	chr19:56743681-56743682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190205910	chr19:56743726-56743727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144672754	chr19:56743811-56743812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531819738	chr19:56743842-56743843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111369454	chr19:56743870-56743871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560645247	chr19:56743906-56743907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61430833	chr19:56743931-56743932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546266174	chr19:56743932-56743933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34505507	chr19:56743974-56743975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193135241	chr19:56743988-56743989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56734600-56756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:56735200-56749200	Weak transcription	Spleen	Spleen
4	chr19:56735400-56774400	Weak transcription	Primary T cells from cord blood	blood
5	chr19:56744800-56745200	Weak transcription	Aorta	Aorta
6	chr19:56745200-56745400	ZNF genes & repeats	Aorta	Aorta
7	chr19:56747600-56781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:56749600-56750000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:56750800-56751000	Active TSS	Lung	lung
10	chr19:56751000-56776400	Weak transcription	Lung	lung
11	chr19:56752800-56758600	Weak transcription	Hela-S3	cervix

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