Variant report

Variant	nsv963752
Chromosome Location	chr2:181734234-181756646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:181737483-181738072	GM12878	blood:	n/a	n/a
2	BATF	chr2:181737885-181738092	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:181737631-181737744	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:181737599-181737814	K562	blood:	n/a	n/a
5	CEBPB	chr2:181737453-181737854	K562	blood:	n/a	n/a
6	CEBPB	chr2:181737565-181737724	K562	blood:	n/a	n/a
7	CEBPB	chr2:181737602-181737741	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:181737599-181737762	A549	lung:	n/a	n/a
9	CTCF	chr2:181748280-181748430	HepG2	liver:	n/a	n/a
10	CTCF	chr2:181738080-181738256	A549	lung:	n/a	n/a
11	CTCF	chr2:181735500-181735650	NHEK	skin:	n/a	n/a
12	EBF1	chr2:181737871-181738058	GM12878	blood:	n/a	n/a
13	EP300	chr2:181737614-181737859	GM12878	blood:	n/a	n/a
14	FOS	chr2:181755584-181755916	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:181755585-181755823	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA2	chr2:181737414-181737932	K562	blood:	n/a	n/a
17	GATA3	chr2:181746100-181746644	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr2:181738677-181738863	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr2:181736949-181737463	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr2:181751576-181751715	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr2:181746270-181746449	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr2:181756151-181756285	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr2:181736953-181737509	SK-N-SH	brain:	n/a	n/a
24	GTF2F1	chr2:181756244-181756258	H1-hESC	embryonic stem cell:	n/a	n/a
25	HEY1	chr2:181737917-181738177	K562	blood:	n/a	n/a
26	HEY1	chr2:181737370-181738190	K562	blood:	n/a	n/a
27	HEY1	chr2:181737641-181737846	HepG2	liver:	n/a	n/a
28	HEY1	chr2:181737320-181737599	HepG2	liver:	n/a	n/a
29	IRF4	chr2:181737593-181737925	GM12878	blood:	n/a	n/a
30	IRF4	chr2:181737344-181737755	GM12878	blood:	n/a	n/a
31	JUN	chr2:181751817-181751900	K562	blood:	n/a	n/a
32	JUN	chr2:181739437-181739467	K562	blood:	n/a	n/a
33	MAFK	chr2:181737108-181737372	IMR90	lung:	n/a	n/a
34	MEF2A	chr2:181736915-181737484	SK-N-SH	brain:	n/a	n/a
35	MEF2A	chr2:181736859-181737383	SK-N-SH	brain:	n/a	n/a
36	MYC	chr2:181750923-181750951	K562	blood:	n/a	n/a
37	MYC	chr2:181748164-181748212	MCF-7	breast:	n/a	n/a
38	PAX5	chr2:181737438-181737821	GM12878	blood:	n/a	n/a
39	PAX5	chr2:181737679-181737927	GM12878	blood:	n/a	n/a
40	PBX3	chr2:181736939-181737482	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr2:181737472-181737916	A549	lung:	n/a	n/a
42	POLR2A	chr2:181737426-181737912	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr2:181748074-181748094	A549	lung:	n/a	n/a
44	POLR2A	chr2:181737080-181737468	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr2:181743582-181743778	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:181737922-181738256	A549	lung:	n/a	n/a
47	POLR2A	chr2:181737337-181738223	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:181737378-181738160	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr2:181748116-181748227	Gliobla	brain:	n/a	n/a
50	POLR2A	chr2:181748154-181748185	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:181738051-181738101	Caco-2	colon:	n/a
2	chr2:181738051-181738101	K562	blood:	n/a
3	chr2:181738144-181738194	HNPCEpiC	eye:	n/a
4	chr2:181738271-181738321	BJ	skin:	n/a
5	chr2:181738271-181738321	Caco-2	colon:	n/a
6	chr2:181738051-181738101	GM06990	blood:	n/a
7	chr2:181738051-181738101	PANC-1	pancreas:	n/a
8	chr2:181738051-181738101	Hepatocyte	liver:	n/a
9	chr2:181738271-181738321	HRPEpiC	eye:	n/a
10	chr2:181738144-181738194	HL-60	blood:	n/a
11	chr2:181738051-181738101	HRCEpiC	kidney:	n/a
12	chr2:181738144-181738194	AG09319	gingival:	n/a
13	chr2:181738051-181738101	AoSMC	blood vessel:	n/a
14	chr2:181738144-181738194	HRPEpiC	eye:	n/a
15	chr2:181738051-181738101	GM12878	blood:	n/a
16	chr2:181738271-181738321	ovcar-3	ovarian:	n/a
17	chr2:181738144-181738194	HCT-116	colon:	n/a
18	chr2:181738271-181738321	NHBE	bronchial:	n/a
19	chr2:181738144-181738194	CMK	blood:	n/a
20	chr2:181738271-181738321	AG09309	skin:	n/a
21	chr2:181738271-181738321	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:181738144-181738194	AoSMC	blood vessel:	n/a
23	chr2:181738271-181738321	HIPEpiC	eye:	n/a
24	chr2:181738144-181738194	NH-A	brain:	n/a
25	chr2:181738271-181738321	GM06990	blood:	n/a
26	chr2:181738144-181738194	AG04450	lung:	fetal
27	chr2:181738144-181738194	MCF-7	breast:	n/a
28	chr2:181738271-181738321	HL-60	blood:	n/a
29	chr2:181738271-181738321	A549	lung:	n/a
30	chr2:181738271-181738321	Hepatocyte	liver:	n/a
31	chr2:181738144-181738194	HRE	kidney:	n/a
32	chr2:181738051-181738101	AG04449	skin:	fetal
33	chr2:181738271-181738321	HNPCEpiC	eye:	n/a
34	chr2:181738144-181738194	T-47D	breast:	n/a
35	chr2:181738051-181738101	BE2_C	brain:	n/a
36	chr2:181738271-181738321	PrEC	prostate:	n/a
37	chr2:181738051-181738101	IMR90	lung:	fetal
38	chr2:181738271-181738321	HCF	heart:	n/a
39	chr2:181738051-181738101	HEEpiC	esophagus:	n/a
40	chr2:181738144-181738194	HEEpiC	esophagus:	n/a
41	chr2:181738271-181738321	SAEC	small airway:	n/a
42	chr2:181738144-181738194	NHDF-neo	bronchial:	n/a
43	chr2:181738271-181738321	ProgFib	skin:	n/a
44	chr2:181738144-181738194	HUVEC	blood vessel:	n/a
45	chr2:181738144-181738194	NHBE	bronchial:	n/a
46	chr2:181738144-181738194	SK-N-SH	brain:	n/a
47	chr2:181738051-181738101	SK-N-MC	brain:	n/a
48	chr2:181738051-181738101	LNCaP	prostate:	n/a
49	chr2:181738271-181738321	NH-A	brain:	n/a
50	chr2:181738051-181738101	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181754821..181757202-chr2:181764527..181766367,2	K562	blood:
2	chr2:181730611..181732422-chr2:181735699..181737435,2	K562	blood:

No data

Variant related genes	Relation type
FTH1P20	TF binding region
FTH1P20	CpG island

Extended variants
information (count: 176 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182741602	chr2:181735603-181735604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555360761	chr2:181735609-181735610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113308603	chr2:181735610-181735611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541125672	chr2:181735705-181735706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77965436	chr2:181735725-181735726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573045786	chr2:181735742-181735743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577411419	chr2:181735829-181735830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543238675	chr2:181735835-181735836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563223352	chr2:181735859-181735860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117170251	chr2:181735863-181735864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541655213	chr2:181735896-181735897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548260644	chr2:181735906-181735907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562117084	chr2:181735986-181735987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112266384	chr2:181736000-181736001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186131107	chr2:181736002-181736003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4464236	chr2:181736026-181736027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189671989	chr2:181736055-181736056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571005689	chr2:181736088-181736089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540018045	chr2:181736119-181736120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550432252	chr2:181736177-181736178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570220101	chr2:181736211-181736212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146849539	chr2:181736220-181736221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555018646	chr2:181736221-181736222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565680969	chr2:181736272-181736273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540069308	chr2:181736361-181736362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6756832	chr2:181736413-181736414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557408222	chr2:181736432-181736433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577350859	chr2:181736447-181736448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543176898	chr2:181736462-181736463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535123264	chr2:181736502-181736503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9677524	chr2:181736508-181736509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs544536085	chr2:181736525-181736526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114508056	chr2:181736546-181736547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559427613	chr2:181736560-181736561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373249922	chr2:181736567-181736568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527683928	chr2:181736579-181736580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139751642	chr2:181736600-181736601	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9677649	chr2:181736649-181736650	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142998825	chr2:181736692-181736693	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556550705	chr2:181736739-181736740	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550372833	chr2:181736744-181736745	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs570237992	chr2:181736774-181736775	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs545867193	chr2:181736808-181736809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs151136888	chr2:181736904-181736905	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549644405	chr2:181736916-181736917	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34356354	chr2:181736923-181736924	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566269331	chr2:181736928-181736929	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs528744854	chr2:181736935-181736936	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs11894079	chr2:181736936-181736937	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570979906	chr2:181736947-181736948	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181735600-181736400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:181736400-181736600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:181736400-181737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:181736400-181737200	Enhancers	NHDF-Ad	bronchial
5	chr2:181736400-181738200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:181736600-181737000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:181736600-181737000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:181736600-181737200	Enhancers	HSMMtube	muscle
9	chr2:181736600-181737200	Enhancers	NHLF	lung
10	chr2:181736800-181737200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:181736800-181737200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:181736800-181737200	Enhancers	HSMM	muscle
13	chr2:181737000-181737600	Enhancers	NH-A	brain
14	chr2:181737000-181738200	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:181737800-181738400	Enhancers	Placenta	Placenta
16	chr2:181738000-181738400	Active TSS	A549	lung
17	chr2:181738400-181738600	Flanking Active TSS	A549	lung
18	chr2:181747800-181748200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:181755200-181756000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:181755400-181756000	Enhancers	NHDF-Ad	bronchial
21	chr2:181755400-181756000	Enhancers	Osteobl	bone

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