Variant report

Variant	nsv979252
Chromosome Location	chr2:110555837-110558408
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	BATF	chr2:110555685-110555899	GM12878	blood:	n/a	n/a
2	BCL11A	chr2:110555695-110555957	GM12878	blood:	n/a	n/a
3	CTCF	chr2:110556228-110556237	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr2:110555980-110556401	A549	lung:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
5	CTCF	chr2:110556016-110556318	A549	lung:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
6	CTCF	chr2:110556146-110556265	Medullo	brain:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
7	CTCF	chr2:110556012-110556406	A549	lung:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
8	CTCF	chr2:110556031-110556309	K562	blood:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
9	CTCF	chr2:110556160-110556283	LNCaP	prostate:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
10	CTCF	chr2:110556155-110556285	LNCaP	prostate:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
11	CTCF	chr2:110555665-110556474	A549	lung:	n/a	chr2:110556198-110556216 chr2:110556193-110556214
12	EP300	chr2:110558378-110558942	GM12878	blood:	n/a	n/a
13	EP300	chr2:110556031-110556326	GM12878	blood:	n/a	chr2:110556125-110556139
14	FOSL2	chr2:110557859-110558301	HepG2	liver:	n/a	n/a
15	FOSL2	chr2:110555627-110556394	HepG2	liver:	n/a	n/a
16	FOSL2	chr2:110555689-110556392	HepG2	liver:	n/a	n/a
17	FOSL2	chr2:110558123-110558487	HepG2	liver:	n/a	n/a
18	FOSL2	chr2:110557195-110557444	HepG2	liver:	n/a	n/a
19	FOXA1	chr2:110556718-110557314	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:110555570-110556564	HepG2	liver:	n/a	n/a
21	FOXA2	chr2:110556004-110556427	A549	lung:	n/a	n/a
22	FOXA2	chr2:110556489-110557072	A549	lung:	n/a	n/a
23	FOXA2	chr2:110556044-110556399	A549	lung:	n/a	n/a
24	GATA2	chr2:110555590-110555846	K562	blood:	n/a	n/a
25	GATA2	chr2:110555998-110556449	K562	blood:	n/a	n/a
26	HEY1	chr2:110556048-110556284	K562	blood:	n/a	n/a
27	HEY1	chr2:110557272-110557407	HepG2	liver:	n/a	n/a
28	IRF4	chr2:110556001-110556386	GM12878	blood:	n/a	n/a
29	IRF4	chr2:110555900-110556355	GM12878	blood:	n/a	n/a
30	JUND	chr2:110555713-110556401	HepG2	liver:	n/a	n/a
31	JUND	chr2:110557618-110557753	HepG2	liver:	n/a	n/a
32	JUND	chr2:110556089-110556307	HepG2	liver:	n/a	n/a
33	JUND	chr2:110557588-110557815	HepG2	liver:	n/a	n/a
34	JUND	chr2:110556987-110557206	HepG2	liver:	n/a	n/a
35	JUND	chr2:110557248-110557386	HepG2	liver:	n/a	n/a
36	JUND	chr2:110557235-110557560	HepG2	liver:	n/a	n/a
37	PAX5	chr2:110556014-110556277	GM12878	blood:	n/a	n/a
38	PAX5	chr2:110555760-110555976	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:110558407-110558982	GM12878	blood:	n/a	n/a
40	POLR2A	chr2:110557151-110557624	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr2:110557081-110557833	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:110557486-110558343	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:110557936-110558351	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:110556832-110557463	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:110555921-110556389	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:110555578-110556222	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:110555790-110556395	GM12878	blood:	n/a	n/a
48	POU2F2	chr2:110555644-110556399	GM12878	blood:	n/a	n/a
49	POU2F2	chr2:110557192-110557905	GM12878	blood:	n/a	n/a
50	POU2F2	chr2:110556117-110556239	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RGPD5	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 67 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372016063	chr2:110556568-110556569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs10191102	chr2:110556714-110556715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	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
Ovarian cancer	21781307	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD

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

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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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