Variant report

Variant	nsv961235
Chromosome Location	chr19:51128736-51131477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51131420-51131570	K562	blood:	n/a	n/a
2	CTCF	chr19:51131477-51131502	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:51131457-51131518	MCF-7	breast:	n/a	n/a
4	CTCF	chr19:51131414-51131551	MCF-7	breast:	n/a	n/a
5	CTCF	chr19:51131418-51131627	K562	blood:	n/a	chr19:51131610-51131620
6	CTCF	chr19:51131476-51131511	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr19:51131416-51131551	K562	blood:	n/a	n/a
8	CTCF	chr19:51131340-51131582	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr19:51131277-51131692	H1-hESC	embryonic stem cell:	n/a	chr19:51131611-51131621 chr19:51131611-51131623 chr19:51131610-51131619

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51128770-51128820	HRE	kidney:	n/a
2	chr19:51128770-51128820	ECC-1	luminal epithelium:	n/a
3	chr19:51130408-51130458	HL-60	blood:	n/a
4	chr19:51130408-51130458	Caco-2	colon:	n/a
5	chr19:51128770-51128820	HIPEpiC	eye:	n/a
6	chr19:51130408-51130458	AoSMC	blood vessel:	n/a
7	chr19:51128770-51128820	NHDF-neo	bronchial:	n/a
8	chr19:51128770-51128820	MCF10A-Er-Src	breast:	n/a
9	chr19:51128770-51128820	AG04450	lung:	fetal
10	chr19:51130408-51130458	K562	blood:	n/a
11	chr19:51130408-51130458	HRCEpiC	kidney:	n/a
12	chr19:51130408-51130458	HRE	kidney:	n/a
13	chr19:51128770-51128820	PrEC	prostate:	n/a
14	chr19:51130408-51130458	HAEpiC	amniotic membrane:	n/a
15	chr19:51128770-51128820	HEK293	kidney:	embryo
16	chr19:51130408-51130458	Hepatocyte	liver:	n/a
17	chr19:51128770-51128820	HAEpiC	amniotic membrane:	n/a
18	chr19:51130408-51130458	RPTEC	kidney:	n/a
19	chr19:51128770-51128820	AoSMC	blood vessel:	n/a
20	chr19:51130408-51130458	PFSK-1	brain:	n/a
21	chr19:51130408-51130458	NHDF-neo	bronchial:	n/a
22	chr19:51130408-51130458	SK-N-MC	brain:	n/a
23	chr19:51128770-51128820	SAEC	small airway:	n/a
24	chr19:51130408-51130458	HEK293	kidney:	embryo
25	chr19:51128770-51128820	NT2-D1	testis:	n/a
26	chr19:51130408-51130458	HRPEpiC	eye:	n/a
27	chr19:51130408-51130458	LNCaP	prostate:	n/a
28	chr19:51128770-51128820	GM12878	blood:	n/a
29	chr19:51128770-51128820	BE2_C	brain:	n/a
30	chr19:51128770-51128820	T-47D	breast:	n/a
31	chr19:51130408-51130458	ovcar-3	ovarian:	n/a
32	chr19:51128770-51128820	MCF-7	breast:	n/a
33	chr19:51128770-51128820	HCPEpiC	choroid plexus:	n/a
34	chr19:51130408-51130458	MCF-7	breast:	n/a
35	chr19:51130408-51130458	AG09309	skin:	n/a
36	chr19:51130408-51130458	SK-N-SH_RA	brain:	n/a
37	chr19:51128770-51128820	IMR90	lung:	fetal
38	chr19:51128770-51128820	K562	blood:	n/a
39	chr19:51128770-51128820	HRCEpiC	kidney:	n/a
40	chr19:51130408-51130458	AG04449	skin:	fetal
41	chr19:51128770-51128820	HCT-116	colon:	n/a
42	chr19:51128770-51128820	NHBE	bronchial:	n/a
43	chr19:51128770-51128820	AG10803	skin:	n/a
44	chr19:51128770-51128820	HNPCEpiC	eye:	n/a
45	chr19:51128770-51128820	BJ	skin:	n/a
46	chr19:51128770-51128820	ovcar-3	ovarian:	n/a
47	chr19:51130408-51130458	IMR90	lung:	fetal
48	chr19:51130408-51130458	Jurkat	blood:	n/a
49	chr19:51128770-51128820	AG09319	gingival:	n/a
50	chr19:51130408-51130458	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
SYT3	TF binding region
SYT3	CpG island

Extended variants
information (count: 131 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188228927	chr19:51128785-51128786	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs141072825	chr19:51128801-51128802	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs371487180	chr19:51128802-51128803	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs202126818	chr19:51128814-51128815	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs545905607	chr19:51128835-51128836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373873031	chr19:51128841-51128842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10426057	chr19:51128856-51128857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs543490534	chr19:51128868-51128869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562783355	chr19:51128899-51128900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529970585	chr19:51128931-51128932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548335021	chr19:51129034-51129035	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs60401344	chr19:51129043-51129044	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202030881	chr19:51129044-51129045	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7260377	chr19:51129051-51129052	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59948874	chr19:51129052-51129053	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7260383	chr19:51129060-51129061	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138371650	chr19:51129061-51129062	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7260283	chr19:51129064-51129065	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570605777	chr19:51129085-51129086	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537825635	chr19:51129086-51129087	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555914893	chr19:51129089-51129090	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145686572	chr19:51129176-51129177	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368077148	chr19:51129203-51129204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200111183	chr19:51129212-51129213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201091203	chr19:51129218-51129219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375870674	chr19:51129245-51129246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554304952	chr19:51129281-51129282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369354837	chr19:51129337-51129338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572310731	chr19:51129347-51129348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373493529	chr19:51129351-51129352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546037038	chr19:51129366-51129367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557818860	chr19:51129374-51129375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576161939	chr19:51129453-51129454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111668073	chr19:51129536-51129537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531777205	chr19:51129593-51129594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561957462	chr19:51129597-51129598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116919905	chr19:51129660-51129661	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541766792	chr19:51129700-51129701	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs141028360	chr19:51129723-51129724	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369028798	chr19:51129739-51129740	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs571774968	chr19:51129741-51129742	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs117734003	chr19:51129745-51129746	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200426064	chr19:51129752-51129753	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs367944310	chr19:51129760-51129761	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201156877	chr19:51129761-51129762	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs377588924	chr19:51129763-51129764	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374018508	chr19:51129769-51129770	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571469446	chr19:51129779-51129780	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4545924	chr19:51129796-51129797	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs1862480	chr19:51129819-51129820	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51126400-51137400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr19:51127400-51129400	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:51128600-51130200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51128800-51129400	Enhancers	Fetal Muscle Leg	muscle
5	chr19:51129000-51129200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr19:51129200-51129400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:51129200-51129400	Enhancers	Fetal Muscle Trunk	muscle
8	chr19:51129400-51129600	Enhancers	Brain Hippocampus Middle	brain
9	chr19:51129600-51130200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
10	chr19:51130200-51130600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:51130400-51130600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:51130600-51132400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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