Variant report

Variant	nsv978753
Chromosome Location	chr19:51364648-51373616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:51373255-51374198	K562	blood:	n/a	n/a
2	CBX3	chr19:51373612-51374099	K562	blood:	n/a	n/a
3	CEBPB	chr19:51370561-51370585	HepG2	liver:	n/a	chr19:51370570-51370581
4	CEBPB	chr19:51370496-51370601	A549	lung:	n/a	chr19:51370570-51370581
5	CHD2	chr19:51369850-51370143	K562	blood:	n/a	n/a
6	CREB1	chr19:51373429-51374296	K562	blood:	n/a	chr19:51373839-51373852
7	CREB1	chr19:51373491-51374199	K562	blood:	n/a	chr19:51373839-51373852
8	CREB1	chr19:51373521-51374108	HepG2	liver:	n/a	chr19:51373839-51373852
9	CREB1	chr19:51373534-51374164	GM12878	blood:	n/a	chr19:51373839-51373852
10	CREB1	chr19:51373593-51374052	H1-hESC	embryonic stem cell:	n/a	chr19:51373839-51373852
11	CREB1	chr19:51373611-51374186	GM12878	blood:	n/a	chr19:51373839-51373852
12	CREB1	chr19:51373611-51374070	H1-hESC	embryonic stem cell:	n/a	chr19:51373839-51373852
13	CTCF	chr19:51373550-51374369	A549	lung:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
14	CTCF	chr19:51373524-51374240	SK-N-SH	brain:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
15	CUX1	chr19:51372963-51372981	K562	blood:	n/a	n/a
16	CUX1	chr19:51373514-51373987	K562	blood:	n/a	n/a
17	FOS	chr19:51364225-51364663	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA3	chr19:51372754-51373062	MCF-7	breast:	n/a	n/a
19	GATA3	chr19:51372673-51373114	MCF-7	breast:	n/a	n/a
20	HEY1	chr19:51373610-51373973	K562	blood:	n/a	chr19:51373840-51373849 chr19:51373824-51373839 chr19:51373842-51373851
21	JUN	chr19:51372866-51374355	K562	blood:	n/a	chr19:51373837-51373850 chr19:51373841-51373850
22	JUND	chr19:51373610-51374124	K562	blood:	n/a	chr19:51373841-51373850
23	MAX	chr19:51373505-51374209	K562	blood:	n/a	n/a
24	MAX	chr19:51373467-51374205	A549	lung:	n/a	n/a
25	MAX	chr19:51373581-51374035	K562	blood:	n/a	n/a
26	MAX	chr19:51373608-51373992	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr19:51373520-51374150	A549	lung:	n/a	n/a
28	MYC	chr19:51373610-51374111	K562	blood:	n/a	n/a
29	NRF1	chr19:51373420-51374095	SK-N-SH	brain:	n/a	chr19:51373741-51373750 chr19:51373739-51373750 chr19:51373736-51373750 chr19:51373739-51373750 chr19:51373739-51373753
30	NRF1	chr19:51373575-51373883	K562	blood:	n/a	chr19:51373741-51373750 chr19:51373739-51373750 chr19:51373736-51373750 chr19:51373739-51373750 chr19:51373739-51373753
31	POLR2A	chr19:51372294-51372389	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:51364514-51364676	ProgFib	skin:	n/a	n/a
33	POU2F2	chr19:51373546-51374093	GM12891	blood:	n/a	n/a
34	RAD21	chr19:51373549-51374248	SK-N-SH	brain:	n/a	chr19:51373915-51373925 chr19:51373911-51373930
35	RCOR1	chr19:51373575-51374057	K562	blood:	n/a	n/a
36	SIN3AK20	chr19:51372585-51373316	MCF-7	breast:	n/a	n/a
37	STAT3	chr19:51364491-51364691	MCF10A-Er-Src	breast:	n/a	chr19:51364569-51364581
38	TAF1	chr19:51373605-51373991	K562	blood:	n/a	n/a
39	TEAD4	chr19:51373569-51374168	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51306397..51308318-chr19:51369356..51371839,3	K562	blood:
2	chr19:51297152..51303261-chr19:51371696..51377038,8	K562	blood:
3	chr19:51303704..51305752-chr19:51372094..51375734,4	K562	blood:
4	chr19:51368140..51370894-chr19:51374787..51377446,2	K562	blood:
5	chr19:51292849..51296626-chr19:51372637..51375537,3	K562	blood:
6	chr19:51339489..51342221-chr19:51372439..51375548,3	K562	blood:
7	chr19:51357036..51359408-chr19:51369066..51370835,2	K562	blood:
8	chr19:51335920..51338243-chr19:51361874..51364781,2	K562	blood:
9	chr19:51304609..51306966-chr19:51367482..51368992,2	K562	blood:
10	chr19:51297446..51299225-chr19:51366827..51368327,2	K562	blood:
11	chr19:51303704..51306185-chr19:51373080..51375734,4	K562	blood:
12	chr19:51321017..51323255-chr19:51371295..51373304,2	K562	blood:
13	chr19:51372696..51375845-chr19:51379331..51383690,4	K562	blood:
14	chr19:51367668..51370894-chr19:51374787..51378552,5	K562	blood:
15	chr19:51306448..51310717-chr19:51372415..51375235,4	K562	blood:
16	chr19:51357627..51359895-chr19:51362884..51364661,2	K562	blood:
17	chr19:51296429..51299323-chr19:51371370..51374659,5	K562	blood:
18	chr19:51304876..51308314-chr19:51372660..51375800,4	MCF-7	breast:
19	chr19:51306202..51308468-chr19:51372838..51375377,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLK4-2	chr19:51368934-51369149	l_1707_chr19:51368933-51375786_hela

Variant related genes	Relation type
KLK2	TF binding region
ENSG00000167751	chromatin interactions
ENSG00000221241	chromatin interactions
ENSG00000220988	chromatin interactions
ENSG00000268375	chromatin interactions
ENSG00000180279	chromatin interactions
ENSG00000221381	chromatin interactions
ENSG00000142515	chromatin interactions
ENSG00000267880	chromatin interactions
ENSG00000142513	chromatin interactions
ENSG00000167747	chromatin interactions
ENSG00000174562	chromatin interactions

Extended variants
information (count: 266 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17632611	chr19:51364649-51364650	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530096832	chr19:51364673-51364674	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548340641	chr19:51364687-51364688	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181214839	chr19:51364704-51364705	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567536508	chr19:51364711-51364712	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62113216	chr19:51364803-51364804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112084300	chr19:51364817-51364818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558865508	chr19:51364818-51364819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55901451	chr19:51364821-51364822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55887816	chr19:51364867-51364868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2735840	chr19:51364873-51364874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185873411	chr19:51364898-51364899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73932662	chr19:51364899-51364900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554300073	chr19:51364902-51364903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73932663	chr19:51364904-51364905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375155969	chr19:51364905-51364906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369612646	chr19:51364952-51364953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147663932	chr19:51364958-51364959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35238237	chr19:51367533-51367534	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34125640	chr19:51367556-51367557	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551979778	chr19:51367592-51367593	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570037247	chr19:51367595-51367596	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs537518854	chr19:51367596-51367597	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2739457	chr19:51367646-51367647	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs58823125	chr19:51367667-51367668	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567609235	chr19:51367672-51367673	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs534737232	chr19:51367705-51367706	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs74560882	chr19:51367713-51367714	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs566402942	chr19:51367715-51367716	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569994218	chr19:51367734-51367735	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs61548536	chr19:51367782-51367783	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572035283	chr19:51367794-51367795	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs140313172	chr19:51367804-51367805	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs557897027	chr19:51367805-51367806	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs191253997	chr19:51367833-51367834	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs112465338	chr19:51367888-51367889	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs137888415	chr19:51367898-51367899	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs573672421	chr19:51367901-51367902	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs34532440	chr19:51367948-51367949	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377746326	chr19:51367982-51367983	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs560068094	chr19:51367987-51367988	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs533704649	chr19:51368048-51368049	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs551803672	chr19:51368049-51368050	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs563879516	chr19:51368063-51368064	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs531020518	chr19:51368066-51368067	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs2739458	chr19:51368103-51368104	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141604541	chr19:51368139-51368140	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs117005051	chr19:51368188-51368189	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs546621321	chr19:51368196-51368197	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs571321552	chr19:51368197-51368198	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51361400-51364800	Enhancers	Esophagus	oesophagus
2	chr19:51364600-51364800	Weak transcription	Pancreas	Pancrea
3	chr19:51364600-51365000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:51372600-51373000	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr19:51373200-51374200	Bivalent/Poised TSS	A549	lung
6	chr19:51373400-51374200	Bivalent/Poised TSS	HepG2	liver
7	chr19:51373400-51374400	Flanking Active TSS	K562	blood
8	chr19:51373600-51374200	Enhancers	Placenta	Placenta

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