Variant report

Variant	nsv872265
Chromosome Location	chr1:146901677-146934180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:146908268-146908309	K562	blood:	n/a	n/a
2	CTCF	chr1:146906555-146906565	GM20000	blood:	n/a	n/a
3	CTCF	chr1:146906185-146906243	GM20000	blood:	n/a	n/a
4	E2F4	chr1:146930294-146930504	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr1:146911020-146911148	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr1:146906688-146907086	GM12878	blood:	n/a	chr1:146906892-146906903 chr1:146906894-146906903
7	FOS	chr1:146923260-146923413	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:146910831-146911013	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr1:146923069-146923341	SH-SY5Y	brain:	n/a	n/a
10	MAFK	chr1:146922418-146922618	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFK	chr1:146905324-146905564	HepG2	liver:	n/a	chr1:146905398-146905409 chr1:146905397-146905408
12	MYC	chr1:146927013-146927121	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:146904319-146904415	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr1:146910242-146910356	ProgFib	skin:	n/a	n/a
15	POLR2A	chr1:146929045-146929358	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:146929044-146929095	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:146902135-146902292	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:146910151-146910234	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:146926991-146927096	MCF-7	breast:	n/a	n/a
20	POLR2A	chr1:146931328-146931504	GM12878	blood:	n/a	n/a
21	REST	chr1:146923440-146923683	H1-hESC	embryonic stem cell:	n/a	n/a
22	REST	chr1:146923433-146923629	HepG2	liver:	n/a	n/a
23	REST	chr1:146923400-146923711	PFSK-1	brain:	n/a	n/a
24	REST	chr1:146923401-146923718	HepG2	liver:	n/a	n/a
25	REST	chr1:146923445-146923758	ECC-1	luminal epithelium:	n/a	n/a
26	REST	chr1:146923462-146923593	GM12878	blood:	n/a	n/a
27	REST	chr1:146923411-146923722	GM12878	blood:	n/a	n/a
28	REST	chr1:146923480-146923690	HCT-116	colon:	n/a	n/a
29	REST	chr1:146923336-146923695	Hela-S3	cervix:	n/a	n/a
30	REST	chr1:146923272-146924035	MCF-7	breast:	n/a	n/a
31	REST	chr1:146923426-146923693	HL-60	blood:	n/a	n/a
32	REST	chr1:146923404-146923699	K562	blood:	n/a	n/a
33	REST	chr1:146923325-146923805	ECC-1	luminal epithelium:	n/a	n/a
34	REST	chr1:146923476-146923591	HepG2	liver:	n/a	n/a
35	REST	chr1:146923413-146923697	PANC-1	pancreas:	n/a	n/a
36	REST	chr1:146923435-146923599	K562	blood:	n/a	n/a
37	REST	chr1:146923328-146923687	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr1:146923306-146923785	HL-60	blood:	n/a	n/a
39	REST	chr1:146923314-146923819	MCF-7	breast:	n/a	n/a
40	REST	chr1:146923430-146923690	Hela-S3	cervix:	n/a	n/a
41	REST	chr1:146923456-146923641	GM12878	blood:	n/a	n/a
42	RFX5	chr1:146923107-146923111	K562	blood:	n/a	n/a
43	SETDB1	chr1:146916155-146916379	U2OS	brain:	n/a	n/a
44	STAT3	chr1:146923232-146923833	MCF10A-Er-Src	breast:	n/a	chr1:146923551-146923560 chr1:146923550-146923559
45	TEAD4	chr1:146923341-146923689	A549	lung:	n/a	n/a
46	ZNF274	chr1:146916110-146916778	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZNF274	chr1:146915999-146916876	K562	blood:	n/a	n/a
48	ZNF274	chr1:146916090-146916498	NT2-D1	testis:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:146902569..146904865-chr1:146917610..146920209,2	MCF-7	breast:
2	chr1:146904930..146907237-chr1:146910258..146912746,2	MCF-7	breast:
3	chr1:146902129..146904025-chr1:146907523..146909259,2	MCF-7	breast:
4	chr1:146904036..146904863-chr6:92344357..92345281,2	MCF-7	breast:
5	chr1:146924006..146926238-chr1:146927310..146929768,2	K562	blood:
6	chr1:146903700..146906235-chr1:146908558..146911092,2	MCF-7	breast:
7	chr1:146900267..146901994-chr1:146917876..146920490,2	MCF-7	breast:
8	chr1:146907560..146910519-chr1:146910936..146913596,2	K562	blood:
9	chr1:146919316..146922658-chr1:146922805..146926781,4	MCF-7	breast:
10	chr1:146892685..146894306-chr1:146902333..146904733,2	K562	blood:
11	chr1:146919316..146922658-chr1:146922805..146926781,4	MCF-7	breast:
12	chr1:146892606..146894867-chr1:146909100..146911293,2	MCF-7	breast:
13	chr1:146900267..146901994-chr1:146917876..146920490,2	MCF-7	breast:
14	chr1:146899574..146902487-chr1:146902750..146904367,2	K562	blood:
15	chr1:146904930..146907237-chr1:146910258..146912746,2	MCF-7	breast:
16	chr1:146902569..146904865-chr1:146917610..146920209,2	MCF-7	breast:
17	chr1:146924006..146926238-chr1:146927310..146929768,2	K562	blood:
18	chr1:146902129..146904025-chr1:146907523..146909259,2	MCF-7	breast:
19	chr1:146903700..146906235-chr1:146908558..146911092,2	MCF-7	breast:
20	chr1:146907560..146910519-chr1:146910936..146913596,2	K562	blood:
21	chr1:146899574..146902487-chr1:146902750..146904367,2	K562	blood:

No data

Variant related genes	Relation type
OR13Z2P	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587748697	chr1:146910036-146910037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141891120	chr1:146910065-146910066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376758671	chr1:146910090-146910091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2353963	chr1:146910143-146910144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs587625178	chr1:146910174-146910175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79186592	chr1:146910191-146910192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145566877	chr1:146910223-146910224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11240044	chr1:146910253-146910254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs587657601	chr1:146910307-146910308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34556093	chr1:146910326-146910327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148050421	chr1:146910367-146910368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141638823	chr1:146910398-146910399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587679706	chr1:146910399-146910400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369299263	chr1:146910440-146910441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6672481	chr1:146910461-146910462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74123851	chr1:146910555-146910556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184712696	chr1:146910596-146910597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587658638	chr1:146916015-146916016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs369528597	chr1:146916030-146916031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149847018	chr1:146916034-146916035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11576468	chr1:146916053-146916054	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs587656361	chr1:146916055-146916056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs587717365	chr1:146916065-146916066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187391997	chr1:146916144-146916145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370323954	chr1:146916145-146916146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs587695774	chr1:146916146-146916147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs587751804	chr1:146916157-146916158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191213579	chr1:146916165-146916166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs587719560	chr1:146916184-146916185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115184677	chr1:146916216-146916217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs587647653	chr1:146916222-146916223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148506476	chr1:146916244-146916245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs587764939	chr1:146916277-146916278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs183336487	chr1:146916287-146916288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11589438	chr1:146916290-146916291	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs587603706	chr1:146916308-146916309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs57351985	chr1:146916309-146916310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs144182757	chr1:146916352-146916353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs12742771	chr1:146916354-146916355	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146583018	chr1:146916362-146916363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs373129135	chr1:146916437-146916438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs138884808	chr1:146916484-146916485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375016702	chr1:146916487-146916488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371299657	chr1:146916507-146916508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs11240050	chr1:146916516-146916517	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113757677	chr1:146916522-146916523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs587635688	chr1:146916556-146916557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs587695044	chr1:146916582-146916583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs587752063	chr1:146916590-146916591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs186925806	chr1:146916591-146916592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:157)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146910000-146910600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:146918800-146919000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:146924400-146925000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr1:146933800-146934400	Enhancers	HMEC	breast
5	chr1:146934000-146934600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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