Variant report

Variant	nsv911653
Chromosome Location	chr19:37482151-37556673
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	ATF1	chr19:37529164-37529303	K562	blood:	n/a	n/a
2	ATF1	chr19:37554237-37554394	K562	blood:	n/a	n/a
3	CEBPB	chr19:37492481-37492583	A549	lung:	n/a	n/a
4	CEBPB	chr19:37490245-37490581	IMR90	lung:	n/a	chr19:37490411-37490422 chr19:37490411-37490424
5	CEBPB	chr19:37522102-37522311	HepG2	liver:	n/a	chr19:37522171-37522182
6	CEBPB	chr19:37508036-37508094	K562	blood:	n/a	n/a
7	CEBPB	chr19:37507926-37508150	A549	lung:	n/a	n/a
8	CEBPB	chr19:37550397-37550553	A549	lung:	n/a	n/a
9	CEBPB	chr19:37490276-37490588	K562	blood:	n/a	chr19:37490411-37490422 chr19:37490411-37490424
10	CEBPB	chr19:37490261-37490570	A549	lung:	n/a	chr19:37490411-37490422 chr19:37490411-37490424
11	CEBPB	chr19:37490300-37490572	H1-hESC	embryonic stem cell:	n/a	chr19:37490411-37490422 chr19:37490411-37490424
12	CEBPB	chr19:37554232-37554417	K562	blood:	n/a	n/a
13	CEBPB	chr19:37522072-37522266	A549	lung:	n/a	chr19:37522171-37522182
14	CEBPB	chr19:37550396-37550474	HepG2	liver:	n/a	n/a
15	CEBPB	chr19:37554243-37554309	K562	blood:	n/a	n/a
16	CEBPB	chr19:37490285-37490579	HepG2	liver:	n/a	chr19:37490411-37490422 chr19:37490411-37490424
17	CTCF	chr19:37534595-37534636	LNCaP	prostate:	n/a	n/a
18	CTCF	chr19:37536992-37537104	Medullo	brain:	n/a	n/a
19	CTCF	chr19:37525536-37525569	Lung_OC	lung:	n/a	n/a
20	CTCF	chr19:37498684-37498693	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr19:37535660-37535810	HEK293	kidney:	n/a	n/a
22	CTCF	chr19:37494600-37494750	Caco-2	colon:	n/a	n/a
23	CTCF	chr19:37556300-37556450	HEK293	kidney:	n/a	n/a
24	E2F4	chr19:37523963-37524010	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F6	chr19:37550138-37550270	K562	blood:	n/a	n/a
26	ELF1	chr19:37498517-37498865	K562	blood:	n/a	chr19:37498664-37498677
27	ELF1	chr19:37498501-37498841	K562	blood:	n/a	chr19:37498664-37498677
28	FOXA1	chr19:37544778-37545083	HepG2	liver:	n/a	n/a
29	FOXA2	chr19:37544640-37545201	A549	lung:	n/a	n/a
30	GABPA	chr19:37493626-37493706	HepG2	liver:	n/a	n/a
31	GATA2	chr19:37554146-37554413	K562	blood:	n/a	n/a
32	GATA3	chr19:37485090-37485221	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr19:37488091-37488271	SH-SY5Y	brain:	n/a	n/a
34	HEY1	chr19:37500961-37501137	K562	blood:	n/a	n/a
35	JUN	chr19:37490289-37490461	HepG2	liver:	n/a	chr19:37490412-37490425
36	KAP1	chr19:37511369-37511582	HEK293	kidney:	n/a	n/a
37	KAP1	chr19:37487820-37488270	HEK293	kidney:	n/a	n/a
38	MYC	chr19:37498952-37499036	MCF-7	breast:	n/a	n/a
39	MYC	chr19:37502591-37502744	MCF-7	breast:	n/a	n/a
40	NR2F2	chr19:37554095-37554437	K562	blood:	n/a	n/a
41	NR2F2	chr19:37554177-37554447	K562	blood:	n/a	n/a
42	NR2F2	chr19:37555798-37556083	K562	blood:	n/a	n/a
43	NRF1	chr19:37498626-37498770	K562	blood:	n/a	chr19:37498700-37498711
44	POLR2A	chr19:37555966-37556935	K562	blood:	n/a	n/a
45	POLR2A	chr19:37529133-37529140	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr19:37551208-37551329	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr19:37538259-37538282	A549	lung:	n/a	n/a
48	POLR2A	chr19:37493567-37493621	A549	lung:	n/a	n/a
49	POLR2A	chr19:37498438-37498837	HL-60	blood:	n/a	n/a
50	POLR2A	chr19:37533499-37533611	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF568-1	chr19:37551031-37551086	NONHSAT066064
2	lnc-ZNF568-1	chr19:37551893-37552190	NONHSAT066064

Variant related genes	Relation type
ZNF420	TF binding region

Extended variants
information (count: 2097 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2097 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1667354	chr19:37482151-37482152	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568823174	chr19:37482230-37482231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187014821	chr19:37482237-37482238	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539242724	chr19:37482273-37482274	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192221655	chr19:37482277-37482278	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs1644680	chr19:37482300-37482301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs3816395	chr19:37482302-37482303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555599206	chr19:37482325-37482326	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2305267	chr19:37482366-37482367	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184289032	chr19:37482379-37482380	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542387710	chr19:37482381-37482382	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs578261506	chr19:37482413-37482414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545249780	chr19:37482439-37482440	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188818540	chr19:37482471-37482472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138628298	chr19:37482758-37482759	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386809030	chr19:37482765-37482766	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7248693	chr19:37482766-37482767	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs1644682	chr19:37482772-37482773	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs78428491	chr19:37482803-37482804	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2547049	chr19:37482817-37482818	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs572057570	chr19:37482847-37482848	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7252797	chr19:37482915-37482916	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551400444	chr19:37482967-37482968	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530431442	chr19:37483003-37483004	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550824511	chr19:37483144-37483145	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368488168	chr19:37483145-37483146	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66941480	chr19:37483158-37483159	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62108441	chr19:37483166-37483167	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7252167	chr19:37483181-37483182	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs533748806	chr19:37483187-37483188	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7253220	chr19:37483219-37483220	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs567800607	chr19:37483231-37483232	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538240110	chr19:37483257-37483258	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373252190	chr19:37483268-37483269	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10413322	chr19:37483319-37483320	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs543730834	chr19:37483320-37483321	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565205501	chr19:37483333-37483334	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145964839	chr19:37483359-37483360	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139720550	chr19:37483361-37483362	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572555466	chr19:37483391-37483392	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10421398	chr19:37483403-37483404	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs10421415	chr19:37483444-37483445	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs529004436	chr19:37483460-37483461	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543787547	chr19:37483479-37483480	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562106747	chr19:37483480-37483481	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532809800	chr19:37483497-37483498	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367776166	chr19:37483543-37483544	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532407400	chr19:37483555-37483556	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551602711	chr19:37483578-37483579	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566661688	chr19:37483643-37483644	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	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
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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	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
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37465000-37487200	Weak transcription	Placenta	Placenta
2	chr19:37465200-37482600	Weak transcription	Right Ventricle	heart
3	chr19:37465400-37483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:37465400-37483600	Weak transcription	Fetal Heart	heart
5	chr19:37465600-37482400	Weak transcription	Fetal Kidney	kidney
6	chr19:37468800-37487800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:37470600-37482200	Weak transcription	Psoas Muscle	Psoas
8	chr19:37471800-37482600	Weak transcription	Brain Substantia Nigra	brain
9	chr19:37472000-37483600	Weak transcription	Osteobl	bone
10	chr19:37472200-37485800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:37472200-37487000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:37472200-37487400	Weak transcription	Brain Angular Gyrus	brain
13	chr19:37472400-37482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:37472400-37482400	Weak transcription	Dnd41	blood
15	chr19:37476600-37483400	Strong transcription	Fetal Stomach	stomach
16	chr19:37476800-37489400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:37477800-37482200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:37478000-37482400	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:37478200-37482400	Weak transcription	Fetal Brain Male	brain
20	chr19:37479200-37489000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:37479800-37489000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr19:37480200-37486400	ZNF genes & repeats	Fetal Brain Female	brain
23	chr19:37480400-37483600	Strong transcription	Fetal Lung	lung
24	chr19:37480400-37488800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr19:37480400-37489000	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr19:37480400-37489000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr19:37480400-37489000	ZNF genes & repeats	Liver	Liver
28	chr19:37480600-37482400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:37480800-37482200	Weak transcription	Gastric	stomach
30	chr19:37481000-37483000	ZNF genes & repeats	Aorta	Aorta
31	chr19:37481200-37482400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:37481400-37489000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:37481600-37482800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr19:37481600-37483400	Strong transcription	Ovary	ovary
35	chr19:37481600-37483600	Strong transcription	Brain Anterior Caudate	brain
36	chr19:37481600-37483800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:37481600-37483800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:37481600-37488600	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr19:37481800-37482600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:37481800-37482600	Strong transcription	Fetal Muscle Leg	muscle
41	chr19:37481800-37482800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:37481800-37483400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:37481800-37483400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:37481800-37483600	Strong transcription	Colon Smooth Muscle	Colon
45	chr19:37481800-37483800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr19:37481800-37484000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
47	chr19:37481800-37484000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:37481800-37484000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr19:37481800-37484200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:37481800-37484200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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