Variant report

Variant	nsv961214
Chromosome Location	chr19:37494699-37506227
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	CTCF	chr19:37498684-37498693	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr19:37494600-37494750	Caco-2	colon:	n/a	n/a
3	ELF1	chr19:37498517-37498865	K562	blood:	n/a	chr19:37498664-37498677
4	ELF1	chr19:37498501-37498841	K562	blood:	n/a	chr19:37498664-37498677
5	HEY1	chr19:37500961-37501137	K562	blood:	n/a	n/a
6	MYC	chr19:37502591-37502744	MCF-7	breast:	n/a	n/a
7	MYC	chr19:37498952-37499036	MCF-7	breast:	n/a	n/a
8	NRF1	chr19:37498626-37498770	K562	blood:	n/a	chr19:37498700-37498711
9	POLR2A	chr19:37500330-37500346	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:37498967-37498995	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:37498893-37498951	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:37498438-37498837	HL-60	blood:	n/a	n/a
13	STAT3	chr19:37505908-37506097	MCF10A-Er-Src	breast:	n/a	n/a
14	YY1	chr19:37503080-37503245	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF420	TF binding region

Extended variants
information (count: 479 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558853855	chr19:37494703-37494704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs376258187	chr19:37494712-37494713	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs826326	chr19:37494765-37494766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs543406170	chr19:37494790-37494791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561699316	chr19:37494865-37494866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573830123	chr19:37494876-37494877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34426017	chr19:37494877-37494878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546453689	chr19:37494908-37494909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561681849	chr19:37494925-37494926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376201052	chr19:37494996-37494997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2441354	chr19:37495012-37495013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2441352	chr19:37495040-37495041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11342576	chr19:37495105-37495106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529063618	chr19:37495155-37495156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550545461	chr19:37495160-37495161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569322924	chr19:37495211-37495212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544661792	chr19:37495244-37495245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564542806	chr19:37495245-37495246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs826327	chr19:37495299-37495300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs192586170	chr19:37495371-37495372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs826328	chr19:37495381-37495382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs11667146	chr19:37495395-37495396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs556075994	chr19:37495414-37495415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563413860	chr19:37495435-37495436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10411037	chr19:37495494-37495495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139909793	chr19:37495497-37495498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143510620	chr19:37495527-37495528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545466709	chr19:37495548-37495549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77697223	chr19:37495551-37495552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572488655	chr19:37495601-37495602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111610816	chr19:37495663-37495664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548952269	chr19:37495695-37495696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567682038	chr19:37495701-37495702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184735077	chr19:37495743-37495744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111760004	chr19:37495915-37495916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550858535	chr19:37495917-37495918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562494547	chr19:37495959-37495960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533172236	chr19:37495982-37495983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563307603	chr19:37495997-37495998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551890842	chr19:37496011-37496012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567001429	chr19:37496013-37496014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114695221	chr19:37496029-37496030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75149899	chr19:37496093-37496094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139109025	chr19:37496124-37496125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374731384	chr19:37496138-37496139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186827299	chr19:37496144-37496145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528780285	chr19:37496162-37496163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556839986	chr19:37496180-37496181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571716332	chr19:37496210-37496211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538879947	chr19:37496211-37496212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37488200-37498200	Weak transcription	Fetal Heart	heart
2	chr19:37488400-37498000	Weak transcription	Placenta	Placenta
3	chr19:37488600-37495200	Weak transcription	Right Ventricle	heart
4	chr19:37488600-37498200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:37488600-37498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:37488600-37498400	Weak transcription	Brain Germinal Matrix	brain
7	chr19:37488600-37498400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:37489000-37497800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:37489000-37498200	Weak transcription	Brain Angular Gyrus	brain
10	chr19:37489000-37498200	Weak transcription	Brain Substantia Nigra	brain
11	chr19:37489000-37498200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr19:37489200-37495000	Weak transcription	Fetal Brain Female	brain
13	chr19:37493800-37498400	Weak transcription	Fetal Muscle Leg	muscle
14	chr19:37495600-37496000	Weak transcription	Right Ventricle	heart
15	chr19:37497200-37497400	Enhancers	K562	blood
16	chr19:37498000-37498200	Enhancers	Placenta	Placenta
17	chr19:37498000-37498600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr19:37498000-37508400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr19:37498200-37498400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr19:37498200-37498400	ZNF genes & repeats	Fetal Heart	heart
21	chr19:37498200-37498400	Active TSS	Fetal Muscle Trunk	muscle
22	chr19:37498200-37499000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:37498200-37499000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:37498200-37499000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:37498200-37499000	Active TSS	Brain Substantia Nigra	brain
26	chr19:37498200-37499000	Active TSS	Colon Smooth Muscle	Colon
27	chr19:37498200-37499000	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr19:37498200-37499000	Flanking Active TSS	Placenta	Placenta
29	chr19:37498200-37499000	Active TSS	K562	blood
30	chr19:37498200-37499200	Active TSS	Primary hematopoietic stem cells	blood
31	chr19:37498200-37499200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:37498200-37499200	Active TSS	Fetal Lung	lung
33	chr19:37498200-37499200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr19:37498200-37499200	Active TSS	Rectal Smooth Muscle	rectum
35	chr19:37498200-37499400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:37498200-37499400	Active TSS	Brain Angular Gyrus	brain
37	chr19:37498200-37499400	Active TSS	Brain Anterior Caudate	brain
38	chr19:37498200-37499400	Active TSS	Brain Hippocampus Middle	brain
39	chr19:37498200-37499400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr19:37498200-37499400	Active TSS	Fetal Kidney	kidney
41	chr19:37498200-37499400	Active TSS	Right Atrium	heart
42	chr19:37498200-37499400	ZNF genes & repeats	A549	lung
43	chr19:37498200-37499400	Active TSS	NHDF-Ad	bronchial
44	chr19:37498200-37499600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:37498200-37499600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:37498200-37499800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr19:37498200-37500000	ZNF genes & repeats	Liver	Liver
48	chr19:37498200-37500000	Active TSS	Stomach Smooth Muscle	stomach
49	chr19:37498200-37501000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr19:37498200-37502800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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