Variant report

Variant	nsv947133
Chromosome Location	chr1:158431706-158440282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:158434517-158434600	A549	lung:	n/a	n/a
2	POLR2A	chr1:158433686-158433933	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:158432012-158432028	Hela-S3	cervix:	n/a	n/a
4	REST	chr1:158435372-158435605	H1-hESC	embryonic stem cell:	n/a	n/a
5	SPI1	chr1:158439568-158439981	HL-60	blood:	n/a	n/a
6	STAT3	chr1:158439364-158439487	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158435396-158435446	GM06990	blood:	n/a
2	chr1:158435396-158435446	ECC-1	luminal epithelium:	n/a
3	chr1:158435277-158435327	NB4	blood:	n/a
4	chr1:158435277-158435327	HL-60	blood:	n/a
5	chr1:158435396-158435446	SK-N-SH_RA	brain:	n/a
6	chr1:158435396-158435446	H1-hESC	embryonic stem cell:	embryo
7	chr1:158435396-158435446	SK-N-SH	brain:	n/a
8	chr1:158435277-158435327	HUVEC	blood vessel:	n/a
9	chr1:158435396-158435446	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:158435277-158435327	HMEC	breast:	n/a
11	chr1:158435277-158435327	HEK293	kidney:	embryo
12	chr1:158435277-158435327	HRCEpiC	kidney:	n/a
13	chr1:158435396-158435446	HEEpiC	esophagus:	n/a
14	chr1:158435396-158435446	CMK	blood:	n/a
15	chr1:158435396-158435446	ovcar-3	ovarian:	n/a
16	chr1:158435277-158435327	PFSK-1	brain:	n/a
17	chr1:158435277-158435327	NH-A	brain:	n/a
18	chr1:158435277-158435327	GM06990	blood:	n/a
19	chr1:158435277-158435327	ECC-1	luminal epithelium:	n/a
20	chr1:158435396-158435446	A549	lung:	n/a
21	chr1:158435396-158435446	NB4	blood:	n/a
22	chr1:158435277-158435327	NHBE	bronchial:	n/a
23	chr1:158435396-158435446	Hepatocyte	liver:	n/a
24	chr1:158435396-158435446	GM12891	blood:	n/a
25	chr1:158435396-158435446	HRCEpiC	kidney:	n/a
26	chr1:158435396-158435446	BE2_C	brain:	n/a
27	chr1:158435277-158435327	Hela-S3	cervix:	n/a
28	chr1:158435396-158435446	HEK293	kidney:	embryo
29	chr1:158435277-158435327	HRE	kidney:	n/a
30	chr1:158435277-158435327	SAEC	small airway:	n/a
31	chr1:158435277-158435327	ovcar-3	ovarian:	n/a
32	chr1:158435277-158435327	CMK	blood:	n/a
33	chr1:158435396-158435446	SAEC	small airway:	n/a
34	chr1:158435277-158435327	PANC-1	pancreas:	n/a
35	chr1:158435277-158435327	SK-N-SH	brain:	n/a
36	chr1:158435396-158435446	HCM	heart:	n/a
37	chr1:158435396-158435446	PrEC	prostate:	n/a
38	chr1:158435277-158435327	HCF	heart:	n/a
39	chr1:158435277-158435327	AG10803	skin:	n/a
40	chr1:158435277-158435327	ProgFib	skin:	n/a
41	chr1:158435277-158435327	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:158435277-158435327	U87	brain:	n/a
43	chr1:158435277-158435327	Caco-2	colon:	n/a
44	chr1:158435396-158435446	PFSK-1	brain:	n/a
45	chr1:158435396-158435446	AG04449	skin:	fetal
46	chr1:158435277-158435327	RPTEC	kidney:	n/a
47	chr1:158435396-158435446	NH-A	brain:	n/a
48	chr1:158435277-158435327	GM12892	blood:	n/a
49	chr1:158435277-158435327	T-47D	breast:	n/a
50	chr1:158435277-158435327	HepG2	liver:	n/a

No data

Variant related genes	Relation type
OR10K1	TF binding region
OR10K1	CpG island

Extended variants
information (count: 465 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537142313	chr1:158431731-158431732	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73025833	chr1:158431747-158431748	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573562277	chr1:158431802-158431803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188217968	chr1:158431813-158431814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61820484	chr1:158431816-158431817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147107310	chr1:158431839-158431840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556482056	chr1:158431842-158431843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545267774	chr1:158431885-158431886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563462542	chr1:158431897-158431898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575258604	chr1:158431906-158431907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528455846	chr1:158431914-158431915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200047170	chr1:158431920-158431921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147566732	chr1:158431924-158431925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554575302	chr1:158431927-158431928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543875342	chr1:158431939-158431940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192218763	chr1:158431993-158431994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529303891	chr1:158432002-158432003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547346479	chr1:158432019-158432020	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs140690289	chr1:158432024-158432025	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184496734	chr1:158432025-158432026	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs551600991	chr1:158432034-158432035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73025835	chr1:158432057-158432058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138570489	chr1:158432064-158432065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67316074	chr1:158432070-158432071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531109058	chr1:158432071-158432072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536776558	chr1:158432076-158432077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34788864	chr1:158432083-158432084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549086466	chr1:158432102-158432103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16840184	chr1:158432105-158432106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534602468	chr1:158432117-158432118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150121621	chr1:158432147-158432148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375100149	chr1:158432160-158432161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376949474	chr1:158432166-158432167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs68078546	chr1:158432167-158432168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6657619	chr1:158432171-158432172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371098887	chr1:158432183-158432184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71632619	chr1:158432184-158432185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs71632620	chr1:158432194-158432195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71632621	chr1:158432204-158432205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71632622	chr1:158432207-158432208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71632623	chr1:158432218-158432219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6681492	chr1:158432285-158432286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557220367	chr1:158432289-158432290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575417972	chr1:158432339-158432340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557298091	chr1:158432341-158432342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542423395	chr1:158432347-158432348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562221052	chr1:158432446-158432447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570672614	chr1:158432486-158432487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138451554	chr1:158432581-158432582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73025843	chr1:158432592-158432593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	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
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
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
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158430800-158431800	Strong transcription	Fetal Thymus	thymus
2	chr1:158430800-158431800	Strong transcription	Thymus	Thymus
3	chr1:158431800-158435400	Weak transcription	Thymus	Thymus
4	chr1:158431800-158443200	Weak transcription	Fetal Thymus	thymus
5	chr1:158435400-158436000	Strong transcription	Thymus	Thymus
6	chr1:158436000-158449600	Weak transcription	Thymus	Thymus

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