Variant report

Variant	nsv963699
Chromosome Location	chr2:111721639-111729623
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	CEBPB	chr2:111724330-111724339	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:111724891-111725328	HepG2	liver:	n/a	chr2:111724960-111724971 chr2:111725020-111725031
3	CTCF	chr2:111723840-111723990	HepG2	liver:	n/a	chr2:111723920-111723929
4	CTCF	chr2:111724404-111724439	Fibrobl	skin:	n/a	n/a
5	CTCF	chr2:111724378-111724380	Fibrobl	skin:	n/a	n/a
6	CUX1	chr2:111724514-111724520	GM12878	blood:	n/a	n/a
7	EP300	chr2:111728637-111728646	K562	blood:	n/a	n/a
8	GTF2F1	chr2:111727883-111728018	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr2:111722987-111723262	HepG2	liver:	n/a	n/a
10	MAFF	chr2:111726485-111726562	K562	blood:	n/a	n/a
11	MAFK	chr2:111726453-111726580	HepG2	liver:	n/a	chr2:111726506-111726521
12	MAFK	chr2:111726378-111726612	HepG2	liver:	n/a	chr2:111726506-111726521
13	MYC	chr2:111724347-111724518	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr2:111724331-111724414	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:111725264-111725305	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:111727893-111728080	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr2:111725584-111725781	K562	blood:	n/a	n/a
18	POLR2A	chr2:111725569-111725719	H1-hESC	embryonic stem cell:	n/a	n/a
19	SPI1	chr2:111726164-111726258	GM12878	blood:	n/a	n/a
20	SPI1	chr2:111727308-111727578	GM12878	blood:	n/a	n/a
21	SPI1	chr2:111727304-111727559	GM12891	blood:	n/a	n/a
22	SPI1	chr2:111727277-111727648	HL-60	blood:	n/a	n/a
23	SPI1	chr2:111726155-111726318	GM12891	blood:	n/a	n/a
24	SPI1	chr2:111726165-111726320	GM12878	blood:	n/a	n/a
25	SPI1	chr2:111726164-111726333	GM12891	blood:	n/a	n/a
26	STAT3	chr2:111726449-111727016	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr2:111725373-111725397	MCF10A-Er-Src	breast:	n/a	n/a
28	USF2	chr2:111724403-111724406	HepG2	liver:	n/a	n/a
29	ZBTB33	chr2:111725558-111725843	K562	blood:	n/a	n/a
30	ZBTB33	chr2:111725312-111725536	K562	blood:	n/a	n/a
31	ZNF384	chr2:111721753-111721819	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111726104..111728832-chr2:111876784..111878487,2	K562	blood:
2	chr2:111729518..111731846-chr2:111877680..111879315,2	MCF-7	breast:

Variant related genes	Relation type
RPL5P9	TF binding region
ENSG00000153094	chromatin interactions

Extended variants
information (count: 306 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117420536	chr2:111721650-111721651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559163371	chr2:111721654-111721655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111769252	chr2:111721661-111721662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541584986	chr2:111721663-111721664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79882282	chr2:111721671-111721672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183462965	chr2:111721693-111721694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542741434	chr2:111721768-111721769	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562510170	chr2:111721875-111721876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531293738	chr2:111721907-111721908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551392255	chr2:111721908-111721909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571492758	chr2:111721938-111721939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17041661	chr2:111721964-111721965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187398790	chr2:111721980-111721981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13000679	chr2:111721998-111721999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536393025	chr2:111722014-111722015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368760280	chr2:111722025-111722026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549851821	chr2:111722030-111722031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569723827	chr2:111722096-111722097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538975335	chr2:111722103-111722104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372277990	chr2:111722113-111722114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13386443	chr2:111722118-111722119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572664567	chr2:111722145-111722146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534985353	chr2:111722159-111722160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555249130	chr2:111722160-111722161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548792971	chr2:111722161-111722162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117708004	chr2:111722185-111722186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567379675	chr2:111722216-111722217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542755404	chr2:111722232-111722233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369540838	chr2:111722250-111722251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562523589	chr2:111722274-111722275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72834544	chr2:111722322-111722323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs62161499	chr2:111722325-111722326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191846215	chr2:111722348-111722349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77063407	chr2:111722364-111722365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547369839	chr2:111722386-111722387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560787212	chr2:111722512-111722513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77539469	chr2:111722513-111722514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184075862	chr2:111722521-111722522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569785520	chr2:111722580-111722581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369283190	chr2:111722595-111722596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552569668	chr2:111722635-111722636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs178903	chr2:111722638-111722639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535369190	chr2:111722680-111722681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555263092	chr2:111722689-111722690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575091146	chr2:111722708-111722709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537611489	chr2:111722710-111722711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558451974	chr2:111722711-111722712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556306385	chr2:111722720-111722721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186914204	chr2:111722760-111722761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192270032	chr2:111722792-111722793	Weak transcription	n/a	n/a	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:21 , 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
11	chr2:111724000-111724600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:111724000-111730000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:111724000-111736400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:111724600-111725000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:111725000-111726200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:111725200-111726000	Enhancers	Left Ventricle	heart
17	chr2:111727000-111727600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:111727000-111728000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:111728000-111728400	Enhancers	Fetal Intestine Small	intestine
20	chr2:111728000-111730600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:111729600-111730000	Enhancers	Right Atrium	heart

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