Variant report

Variant	nsv963716
Chromosome Location	chr2:127311435-127323062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:127314635-127314706	GM13976	blood:	n/a	n/a
2	CTCF	chr2:127312829-127312898	LNCaP	prostate:	n/a	n/a
3	CTCF	chr2:127318962-127319043	Lung_OC	lung:	n/a	n/a
4	FOS	chr2:127318765-127318847	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr2:127317121-127317356	SH-SY5Y	brain:	n/a	n/a
6	MAFK	chr2:127312586-127312623	HepG2	liver:	n/a	n/a
7	MAFK	chr2:127315640-127315760	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:127315697-127315868	A549	lung:	n/a	n/a
9	POLR2A	chr2:127315780-127315834	A549	lung:	n/a	n/a
10	POLR2A	chr2:127316243-127316248	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr2:127320033-127320174	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr2:127315747-127315853	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:127313151-127313522	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:127313141-127313647	GM12892	blood:	n/a	n/a
15	POLR2A	chr2:127312806-127313017	GM12891	blood:	n/a	n/a
16	POLR2A	chr2:127313151-127313552	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:127315758-127315841	A549	lung:	n/a	n/a
18	ZBTB33	chr2:127314869-127315198	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127315703-127315753	PANC-1	pancreas:	n/a
2	chr2:127315703-127315753	PANC-1	pancreas:	n/a
3	chr2:127315703-127315753	HIPEpiC	eye:	n/a
4	chr2:127315703-127315753	LNCaP	prostate:	n/a
5	chr2:127315703-127315753	HRPEpiC	eye:	n/a
6	chr2:127315703-127315753	SK-N-MC	brain:	n/a
7	chr2:127315703-127315753	PrEC	prostate:	n/a
8	chr2:127315703-127315753	Hela-S3	cervix:	n/a
9	chr2:127315703-127315753	HCF	heart:	n/a
10	chr2:127315703-127315753	NHBE	bronchial:	n/a
11	chr2:127315703-127315753	SK-N-SH_RA	brain:	n/a
12	chr2:127315703-127315753	ovcar-3	ovarian:	n/a
13	chr2:127315703-127315753	HUVEC	blood vessel:	n/a
14	chr2:127315703-127315753	T-47D	breast:	n/a
15	chr2:127315703-127315753	AG09319	gingival:	n/a
16	chr2:127315703-127315753	HL-60	blood:	n/a
17	chr2:127315703-127315753	HAEpiC	amniotic membrane:	n/a
18	chr2:127315703-127315753	Jurkat	blood:	n/a
19	chr2:127315703-127315753	U87	brain:	n/a
20	chr2:127315703-127315753	NT2-D1	testis:	n/a
21	chr2:127315703-127315753	PFSK-1	brain:	n/a
22	chr2:127315703-127315753	HepG2	liver:	n/a
23	chr2:127315703-127315753	CMK	blood:	n/a
24	chr2:127315703-127315753	AG04449	skin:	fetal
25	chr2:127315703-127315753	GM12891	blood:	n/a
26	chr2:127315703-127315753	AG09309	skin:	n/a
27	chr2:127315703-127315753	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:127315703-127315753	RPTEC	kidney:	n/a
29	chr2:127315703-127315753	SAEC	small airway:	n/a
30	chr2:127315703-127315753	NHDF-neo	bronchial:	n/a
31	chr2:127315703-127315753	MCF-7	breast:	n/a
32	chr2:127315703-127315753	GM06990	blood:	n/a
33	chr2:127315703-127315753	A549	lung:	n/a
34	chr2:127315703-127315753	AG10803	skin:	n/a
35	chr2:127315703-127315753	HMEC	breast:	n/a
36	chr2:127315703-127315753	ECC-1	luminal epithelium:	n/a
37	chr2:127315703-127315753	GM12878	blood:	n/a
38	chr2:127315703-127315753	HCPEpiC	choroid plexus:	n/a
39	chr2:127315703-127315753	HCT-116	colon:	n/a
40	chr2:127315703-127315753	SK-N-SH	brain:	n/a
41	chr2:127315703-127315753	ProgFib	skin:	n/a
42	chr2:127315703-127315753	BJ	skin:	n/a
43	chr2:127315703-127315753	BE2_C	brain:	n/a
44	chr2:127315703-127315753	NH-A	brain:	n/a
45	chr2:127315703-127315753	NB4	blood:	n/a
46	chr2:127315703-127315753	HEEpiC	esophagus:	n/a
47	chr2:127315703-127315753	HRCEpiC	kidney:	n/a
48	chr2:127315703-127315753	Hepatocyte	liver:	n/a
49	chr2:127315703-127315753	HNPCEpiC	eye:	n/a
50	chr2:127315703-127315753	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
YWHAZP2	TF binding region
YWHAZP2	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372002668	chr2:127315755-127315756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189931721	chr2:127315761-127315762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527673270	chr2:127315797-127315798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548019745	chr2:127315800-127315801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547888364	chr2:127315812-127315813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547183959	chr2:127315859-127315860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187457484	chr2:127317156-127317157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191476727	chr2:127317161-127317162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs6748116	chr2:127317184-127317185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140417555	chr2:127317198-127317199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143828213	chr2:127317221-127317222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112403356	chr2:127318774-127318775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs34806789	chr2:127318801-127318802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs528720388	chr2:127318844-127318845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529655712	chr2:127319016-127319017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569876252	chr2:127320035-127320036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368052347	chr2:127320111-127320112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539168138	chr2:127320117-127320118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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