Variant report

Variant	nsv525937
Chromosome Location	chr1:153299374-153306767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr1:153299739-153300064	MCF-7	breast:	n/a	n/a
2	JUN	chr1:153302471-153302545	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr1:153304262-153304266	K562	blood:	n/a	n/a
4	NFYA	chr1:153303635-153303782	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:153303096-153303102	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:153301972-153301988	K562	blood:	n/a	n/a
7	POLR2A	chr1:153300608-153300755	K562	blood:	n/a	n/a
8	POLR2A	chr1:153302489-153302635	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:153299408-153299941	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:153303106-153303156	MCF-7	breast:	n/a	n/a
11	SETDB1	chr1:153301359-153301726	U2OS	brain:	n/a	n/a
12	SETDB1	chr1:153304145-153304838	U2OS	brain:	n/a	n/a
13	SPI1	chr1:153306357-153306792	HL-60	blood:	n/a	n/a
14	SPI1	chr1:153306427-153306803	HL-60	blood:	n/a	n/a
15	SPI1	chr1:153306445-153306654	GM12891	blood:	n/a	n/a
16	SPI1	chr1:153306397-153306702	GM12878	blood:	n/a	n/a
17	SPI1	chr1:153306404-153306655	K562	blood:	n/a	n/a
18	SPI1	chr1:153306468-153306613	GM12878	blood:	n/a	n/a
19	SPI1	chr1:153306465-153306660	K562	blood:	n/a	n/a
20	SPI1	chr1:153306347-153306740	GM12891	blood:	n/a	n/a
21	ZNF143	chr1:153304512-153304553	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:153297965..153300595-chr1:153301047..153303956,2	MCF-7	breast:
2	chr1:153297965..153300595-chr1:153301047..153303956,2	MCF-7	breast:
3	chr1:153305058..153307996-chr1:153320640..153322441,2	MCF-7	breast:
4	chr1:153294084..153298144-chr1:153301195..153303853,4	MCF-7	breast:
5	chr1:153294490..153296567-chr1:153297370..153299941,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGLYRP4-1	chr1:153284290-153303044	predAs_engstrom06_CR598625_1

No data

Variant related genes	Relation type
RNU6-160P	TF binding region
ENSG00000163218	chromatin interactions

Extended variants
information (count: 268 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs957195	chr1:153299374-153299375	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76521612	chr1:153299411-153299412	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs190806630	chr1:153299427-153299428	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs542108977	chr1:153299467-153299468	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs561791392	chr1:153299476-153299477	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs183720338	chr1:153299486-153299487	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs544000431	chr1:153299512-153299513	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs147618878	chr1:153299556-153299557	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs532850859	chr1:153299557-153299558	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs149100825	chr1:153299574-153299575	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs143186238	chr1:153299599-153299600	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs528837581	chr1:153299627-153299628	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs369614888	chr1:153299654-153299655	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs112877169	chr1:153299661-153299662	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs148284606	chr1:153299679-153299680	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs537669977	chr1:153299699-153299700	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs2916225	chr1:153299715-153299716	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112125486	chr1:153299733-153299734	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs539957558	chr1:153299751-153299752	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs111963253	chr1:153299755-153299756	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs573197332	chr1:153299760-153299761	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs4469672	chr1:153299763-153299764	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs142059641	chr1:153299767-153299768	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs115883717	chr1:153299783-153299784	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs542059656	chr1:153299788-153299789	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs575176137	chr1:153299791-153299792	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs7536986	chr1:153299806-153299807	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs562391388	chr1:153299832-153299833	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs369341308	chr1:153299883-153299884	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs561217926	chr1:153299899-153299900	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs563955539	chr1:153299919-153299920	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs528003374	chr1:153299921-153299922	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs540328085	chr1:153299953-153299954	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs559952301	chr1:153299956-153299957	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs2771115	chr1:153299965-153299966	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs146351168	chr1:153300057-153300058	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs139361464	chr1:153300066-153300067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs80075300	chr1:153300101-153300102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs551265241	chr1:153300130-153300131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs35921651	chr1:153300151-153300152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs59820108	chr1:153300168-153300169	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs9661293	chr1:153300196-153300197	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552301159	chr1:153300245-153300246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs553470265	chr1:153300262-153300263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs566851656	chr1:153300265-153300266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs535873258	chr1:153300304-153300305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs555464104	chr1:153300347-153300348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs76710120	chr1:153300348-153300349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs2771116	chr1:153300351-153300352	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs187801333	chr1:153300425-153300426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
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
Retinoblastoma	19183342	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
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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923191	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153303000-153303200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:153303600-153305200	ZNF genes & repeats	GM12878-XiMat	blood
3	chr1:153305200-153308400	Weak transcription	GM12878-XiMat	blood

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