Variant report

Variant	nsv946442
Chromosome Location	chr1:158886760-158899487
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	CBX3	chr1:158890181-158890418	K562	blood:	n/a	n/a
2	CBX3	chr1:158890208-158890428	K562	blood:	n/a	n/a
3	CEBPB	chr1:158892940-158893228	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:158889006-158889117	HepG2	liver:	n/a	chr1:158889069-158889080
5	CEBPB	chr1:158892963-158893232	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:158889055-158889088	H1-hESC	embryonic stem cell:	n/a	chr1:158889069-158889080
7	CTCF	chr1:158891172-158891229	GM10248	blood:	n/a	n/a
8	CTCF	chr1:158894019-158894095	Lung_OC	lung:	n/a	n/a
9	CUX1	chr1:158897066-158897073	K562	blood:	n/a	n/a
10	EGR1	chr1:158893996-158894285	K562	blood:	n/a	n/a
11	EGR1	chr1:158894050-158894270	K562	blood:	n/a	n/a
12	FOXA1	chr1:158898680-158898867	T-47D	breast:	n/a	n/a
13	HEY1	chr1:158894016-158894119	HepG2	liver:	n/a	n/a
14	KAP1	chr1:158890289-158890519	K562	blood:	n/a	n/a
15	MAFK	chr1:158897067-158897252	IMR90	lung:	n/a	n/a
16	MAFK	chr1:158887413-158887592	HepG2	liver:	n/a	n/a
17	MAFK	chr1:158897091-158897241	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr1:158889558-158889652	HepG2	liver:	n/a	chr1:158889599-158889614
19	MAFK	chr1:158897079-158897235	HepG2	liver:	n/a	n/a
20	MAFK	chr1:158889502-158889674	HepG2	liver:	n/a	chr1:158889599-158889614
21	MAZ	chr1:158894066-158894093	Hela-S3	cervix:	n/a	n/a
22	PBX3	chr1:158898610-158898901	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr1:158894022-158894118	A549	lung:	n/a	n/a
24	POLR2A	chr1:158894034-158894096	A549	lung:	n/a	n/a
25	POLR2A	chr1:158893977-158894218	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr1:158894005-158894126	GM12891	blood:	n/a	n/a
27	POLR2A	chr1:158898707-158898854	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr1:158892229-158892319	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr1:158893987-158894140	U87	brain:	n/a	n/a
30	POLR2A	chr1:158897361-158897582	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr1:158894071-158894102	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr1:158894013-158894118	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr1:158894016-158894121	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:158891412-158891448	GM12878	blood:	n/a	n/a
35	SETDB1	chr1:158896943-158897332	U2OS	brain:	n/a	n/a
36	STAT3	chr1:158892877-158893044	MCF10A-Er-Src	breast:	n/a	chr1:158892882-158892894 chr1:158893000-158893008
37	STAT3	chr1:158892955-158893150	MCF10A-Er-Src	breast:	n/a	chr1:158893000-158893008
38	TEAD4	chr1:158892861-158893200	H1-hESC	embryonic stem cell:	n/a	chr1:158893023-158893032
39	ZNF143	chr1:158890229-158890432	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZNF143	chr1:158897134-158897334	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PYHIN1	TF binding region

Extended variants
information (count: 264 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:264 , 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	rs539050520	chr1:158886767-158886768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573551756	chr1:158886771-158886772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10650576	chr1:158886780-158886781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs66464864	chr1:158886781-158886782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57736501	chr1:158886783-158886784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190748583	chr1:158890013-158890014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572973660	chr1:158890018-158890019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs181982220	chr1:158890022-158890023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185860253	chr1:158890031-158890032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576993606	chr1:158890037-158890038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12037243	chr1:158890038-158890039	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562683071	chr1:158890039-158890040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191206037	chr1:158890059-158890060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548159338	chr1:158890155-158890156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560209742	chr1:158890177-158890178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs527344832	chr1:158890210-158890211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10908696	chr1:158890247-158890248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571789037	chr1:158890295-158890296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs55763958	chr1:158890300-158890301	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138677869	chr1:158890343-158890344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs149575879	chr1:158890347-158890348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182967482	chr1:158890348-158890349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs856096	chr1:158890415-158890416	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12063012	chr1:158890463-158890464	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573456872	chr1:158890476-158890477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545210114	chr1:158890511-158890512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs115154033	chr1:158890537-158890538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114013214	chr1:158890547-158890548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7530951	chr1:158890590-158890591	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543754070	chr1:158893019-158893020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184273455	chr1:158893049-158893050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529372896	chr1:158893068-158893069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11265118	chr1:158893087-158893088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149835539	chr1:158893109-158893110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs856103	chr1:158893122-158893123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79740901	chr1:158893147-158893148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569883830	chr1:158893238-158893239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536965400	chr1:158893242-158893243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554905132	chr1:158893258-158893259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566960244	chr1:158893323-158893324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534393735	chr1:158893341-158893342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552699874	chr1:158893343-158893344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79163798	chr1:158893347-158893348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73019865	chr1:158893351-158893352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558073131	chr1:158893414-158893415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11805756	chr1:158893432-158893433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs543775881	chr1:158893444-158893445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12067562	chr1:158893525-158893526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376521716	chr1:158893542-158893543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114914099	chr1:158893553-158893554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
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	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158885400-158886800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:158890000-158890600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:158893000-158893200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:158893200-158893600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:158893200-158893800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:158893600-158894200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:158893800-158895400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:158893800-158895600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:158894000-158894600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:158894200-158896400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:158894600-158895000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:158895000-158895200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:158895200-158898600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:158895400-158896600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:158895600-158896000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:158896000-158896800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:158896400-158897400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr1:158896600-158897200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:158896800-158898400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:158897200-158898200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:158897400-158899000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:158898200-158900200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:158898400-158898800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:158898600-158900400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:158898800-158899800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:158899000-158900200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:158899000-158900200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:158899200-158899800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:158899200-158900000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:158899200-158900600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:158899400-158900400	Enhancers	Primary T cells from cord blood	blood

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