Variant report

Variant	nsv819214
Chromosome Location	chr2:111720855-111723938
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	chr2:111723840-111723990	HepG2	liver:	n/a	chr2:111723920-111723929
2	JUND	chr2:111722987-111723262	HepG2	liver:	n/a	n/a
3	ZNF384	chr2:111721753-111721819	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ACOXL	TF binding region
RPL5P9	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3789106	chr2:111720884-111720885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538122872	chr2:111720891-111720892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530123133	chr2:111720896-111720897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61659448	chr2:111720897-111720898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185189310	chr2:111720898-111720899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397706776	chr2:111720906-111720907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189653890	chr2:111720909-111720910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571418833	chr2:111720971-111720972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546979696	chr2:111720976-111720977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534076051	chr2:111720988-111720989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554200823	chr2:111721034-111721035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573956824	chr2:111721116-111721117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560238487	chr2:111721131-111721132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111296659	chr2:111721142-111721143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377299422	chr2:111721143-111721144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556452307	chr2:111721144-111721145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56178363	chr2:111721148-111721149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372442557	chr2:111721162-111721163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543117256	chr2:111721172-111721173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374596162	chr2:111721177-111721178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58939588	chr2:111721180-111721181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201771195	chr2:111721182-111721183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368157251	chr2:111721195-111721196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139505303	chr2:111721220-111721221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140942985	chr2:111721226-111721227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145653071	chr2:111721227-111721228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147912462	chr2:111721243-111721244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150414367	chr2:111721272-111721273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372364140	chr2:111721297-111721298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528918615	chr2:111721299-111721300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368367324	chr2:111721305-111721306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549033679	chr2:111721318-111721319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568849603	chr2:111721342-111721343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77029620	chr2:111721389-111721390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551644625	chr2:111721419-111721420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571363980	chr2:111721425-111721426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184212402	chr2:111721438-111721439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10167918	chr2:111721567-111721568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188759191	chr2:111721600-111721601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144369600	chr2:111721612-111721613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112238810	chr2:111721614-111721615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370278864	chr2:111721618-111721619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576022280	chr2:111721620-111721621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117420536	chr2:111721650-111721651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559163371	chr2:111721654-111721655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111769252	chr2:111721661-111721662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541584986	chr2:111721663-111721664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79882282	chr2:111721671-111721672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183462965	chr2:111721693-111721694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542741434	chr2:111721768-111721769	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111707000-111729600	Weak transcription	Right Atrium	heart
2	chr2:111713000-111723000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:111713200-111723400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:111713200-111725200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:111713400-111729800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:111717200-111724000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:111723400-111724000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:111723600-111724000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:111723600-111724000	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:111723600-111726000	Enhancers	Skeletal Muscle Male	skeletal muscle

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