Variant report

Variant	nsv824292
Chromosome Location	chr7:121485473-121494375
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	chr7:121488030-121488054	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr7:121493420-121493660	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr7:121486449-121486690	K562	blood:	n/a	n/a
4	EBF1	chr7:121487396-121487521	GM12878	blood:	n/a	chr7:121487455-121487466
5	FOS	chr7:121493465-121493568	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA2	chr7:121486316-121486882	A549	lung:	n/a	n/a
7	MAX	chr7:121487229-121487340	NB4	blood:	n/a	chr7:121487299-121487309
8	PBX3	chr7:121486503-121486602	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:121487218-121487280	GM12878	blood:	n/a	n/a
10	RFX5	chr7:121490844-121490979	H1-hESC	embryonic stem cell:	n/a	n/a
11	STAT3	chr7:121493502-121493566	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr7:121493410-121493610	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121487900..121489563-chr7:121492911..121495610,2	K562	blood:
2	chr7:121487900..121489563-chr7:121492911..121495610,2	K562	blood:

Variant related genes	Relation type
PNPT1P2	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182397402	chr7:121486333-121486334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs531727262	chr7:121486351-121486352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs572806954	chr7:121486374-121486375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs185474691	chr7:121486406-121486407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558261091	chr7:121486446-121486447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs140761265	chr7:121486453-121486454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs189690658	chr7:121486466-121486467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs555265415	chr7:121486475-121486476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs533807463	chr7:121486514-121486515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs62475698	chr7:121486547-121486548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200841262	chr7:121486565-121486566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs372262301	chr7:121486566-121486567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560052132	chr7:121486572-121486573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9648996	chr7:121486573-121486574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs71546711	chr7:121486574-121486575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs71172149	chr7:121486587-121486588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs12673752	chr7:121486588-121486589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs4731041	chr7:121486702-121486703	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185599611	chr7:121486843-121486844	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149728741	chr7:121486940-121486941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145555201	chr7:121486963-121486964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532490902	chr7:121487011-121487012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546212344	chr7:121487032-121487033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199991983	chr7:121487077-121487078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576805682	chr7:121487091-121487092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73717727	chr7:121487112-121487113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550479089	chr7:121487135-121487136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12673871	chr7:121487204-121487205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201180280	chr7:121487232-121487233	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs529842596	chr7:121487287-121487288	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs546388424	chr7:121487305-121487306	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs566605488	chr7:121487324-121487325	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148915938	chr7:121487366-121487367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556267977	chr7:121487478-121487479	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558553239	chr7:121487510-121487511	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs376347192	chr7:121487545-121487546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537799290	chr7:121487587-121487588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376084848	chr7:121487609-121487610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76354985	chr7:121487823-121487824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191356802	chr7:121487824-121487825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575206562	chr7:121487844-121487845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368896383	chr7:121487867-121487868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540869453	chr7:121487891-121487892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369566855	chr7:121487904-121487905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145553695	chr7:121487930-121487931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546004761	chr7:121487993-121487994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531618297	chr7:121488035-121488036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121486800-121488000	Enhancers	Fetal Brain Male	brain

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