Variant report

Variant	nsv997861
Chromosome Location	chr1:158736215-158754661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:427)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:158737227-158737232	K562	blood:	n/a	n/a
2	CEBPB	chr1:158749817-158749847	K562	blood:	n/a	n/a
3	CEBPB	chr1:158749660-158749862	HepG2	liver:	n/a	chr1:158749776-158749789 chr1:158749776-158749787 chr1:158749777-158749788
4	CEBPB	chr1:158754063-158754299	A549	lung:	n/a	chr1:158754205-158754216
5	CEBPB	chr1:158754057-158754293	HepG2	liver:	n/a	chr1:158754205-158754216
6	CUX1	chr1:158752252-158752291	K562	blood:	n/a	n/a
7	CUX1	chr1:158750898-158750967	K562	blood:	n/a	n/a
8	E2F4	chr1:158743639-158743971	MCF10A-Er-Src	breast:	n/a	n/a
9	EGR1	chr1:158753807-158754074	K562	blood:	n/a	chr1:158753941-158753952
10	ELF1	chr1:158741730-158742096	K562	blood:	n/a	chr1:158741892-158741905
11	ELK1	chr1:158736442-158736467	GM12878	blood:	n/a	n/a
12	EP300	chr1:158743195-158743445	GM12878	blood:	n/a	n/a
13	EP300	chr1:158742332-158742598	K562	blood:	n/a	n/a
14	GATA1	chr1:158741928-158742779	PBDE	blood:	n/a	chr1:158742498-158742515 chr1:158742497-158742506
15	GATA3	chr1:158747928-158747991	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr1:158740950-158741116	SH-SY5Y	brain:	n/a	chr1:158741060-158741081 chr1:158741068-158741085
17	IRF1	chr1:158752380-158752405	K562	blood:	n/a	n/a
18	IRF1	chr1:158754400-158754622	K562	blood:	n/a	n/a
19	IRF1	chr1:158741995-158742023	K562	blood:	n/a	n/a
20	IRF1	chr1:158744651-158744679	K562	blood:	n/a	n/a
21	JUN	chr1:158740188-158740314	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr1:158746256-158746348	HepG2	liver:	n/a	n/a
23	MYC	chr1:158747536-158747538	H1-hESC	embryonic stem cell:	n/a	n/a
24	NRF1	chr1:158746881-158746896	GM12878	blood:	n/a	n/a
25	PAX5	chr1:158753733-158753937	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:158740673-158740697	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr1:158737592-158737676	MCF10A-Er-Src	breast:	n/a	n/a
28	SPI1	chr1:158752834-158753031	K562	blood:	n/a	n/a
29	SPI1	chr1:158752687-158753129	HL-60	blood:	n/a	n/a
30	SPI1	chr1:158752665-158753160	HL-60	blood:	n/a	n/a
31	STAT3	chr1:158752381-158752856	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr1:158754271-158754347	MCF10A-Er-Src	breast:	n/a	n/a
33	TBL1XR1	chr1:158740010-158740114	K562	blood:	n/a	n/a
34	TBP	chr1:158741828-158741910	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158737591-158737641	RPTEC	kidney:	n/a
2	chr1:158736312-158736362	SAEC	small airway:	n/a
3	chr1:158747277-158747327	MCF-7	breast:	n/a
4	chr1:158737591-158737641	H1-hESC	embryonic stem cell:	embryo
5	chr1:158737591-158737641	HIPEpiC	eye:	n/a
6	chr1:158737820-158737870	NHDF-neo	bronchial:	n/a
7	chr1:158748156-158748206	PANC-1	pancreas:	n/a
8	chr1:158736312-158736362	CMK	blood:	n/a
9	chr1:158748156-158748206	HEEpiC	esophagus:	n/a
10	chr1:158737599-158737649	HCPEpiC	choroid plexus:	n/a
11	chr1:158747277-158747327	HAEpiC	amniotic membrane:	n/a
12	chr1:158737599-158737649	H1-hESC	embryonic stem cell:	embryo
13	chr1:158736312-158736362	HRCEpiC	kidney:	n/a
14	chr1:158737591-158737641	HEEpiC	esophagus:	n/a
15	chr1:158736312-158736362	MCF-7	breast:	n/a
16	chr1:158746611-158746661	U87	brain:	n/a
17	chr1:158747277-158747327	U87	brain:	n/a
18	chr1:158746611-158746661	HCPEpiC	choroid plexus:	n/a
19	chr1:158737599-158737649	MCF10A-Er-Src	breast:	n/a
20	chr1:158747277-158747327	Hela-S3	cervix:	n/a
21	chr1:158736312-158736362	HEK293	kidney:	embryo
22	chr1:158737591-158737641	NHBE	bronchial:	n/a
23	chr1:158737599-158737649	NB4	blood:	n/a
24	chr1:158748156-158748206	NB4	blood:	n/a
25	chr1:158747277-158747327	HepG2	liver:	n/a
26	chr1:158737591-158737641	AoSMC	blood vessel:	n/a
27	chr1:158737591-158737641	HL-60	blood:	n/a
28	chr1:158747277-158747327	NT2-D1	testis:	n/a
29	chr1:158747277-158747327	LNCaP	prostate:	n/a
30	chr1:158737591-158737641	U87	brain:	n/a
31	chr1:158736312-158736362	HCPEpiC	choroid plexus:	n/a
32	chr1:158746611-158746661	PFSK-1	brain:	n/a
33	chr1:158737591-158737641	AG04449	skin:	fetal
34	chr1:158747277-158747327	HRPEpiC	eye:	n/a
35	chr1:158746611-158746661	IMR90	lung:	fetal
36	chr1:158737591-158737641	HRE	kidney:	n/a
37	chr1:158737820-158737870	HIPEpiC	eye:	n/a
38	chr1:158748156-158748206	IMR90	lung:	fetal
39	chr1:158748156-158748206	A549	lung:	n/a
40	chr1:158737820-158737870	SAEC	small airway:	n/a
41	chr1:158747277-158747327	AoSMC	blood vessel:	n/a
42	chr1:158747277-158747327	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:158737591-158737641	NHDF-neo	bronchial:	n/a
44	chr1:158748156-158748206	HUVEC	blood vessel:	n/a
45	chr1:158737599-158737649	HCF	heart:	n/a
46	chr1:158748156-158748206	Hela-S3	cervix:	n/a
47	chr1:158746611-158746661	HMEC	breast:	n/a
48	chr1:158747277-158747327	RPTEC	kidney:	n/a
49	chr1:158748156-158748206	SAEC	small airway:	n/a
50	chr1:158748156-158748206	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:158748328..158750308-chr1:158751698..158753611,2	K562	blood:
2	chr1:158748328..158750308-chr1:158751698..158753611,2	K562	blood:
3	chr1:158735490..158738266-chr1:158739766..158741760,2	K562	blood:

No data

Variant related genes	Relation type
OR6N2	TF binding region
OR6N1	TF binding region
OR6N2	CpG island
OR6N1	CpG island
ENSG00000197403	chromatin interactions

Extended variants
information (count: 702 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6666753	chr1:158736215-158736216	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs857828	chr1:158736217-158736218	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373696554	chr1:158736227-158736228	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563675554	chr1:158736263-158736264	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553836664	chr1:158736272-158736273	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113836910	chr1:158736275-158736276	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376841145	chr1:158736301-158736302	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572416173	chr1:158736312-158736313	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189383486	chr1:158736313-158736314	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147418101	chr1:158736319-158736320	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200723413	chr1:158736342-158736343	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148423405	chr1:158736345-158736346	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201712486	chr1:158736361-158736362	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200626708	chr1:158736375-158736376	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144309988	chr1:158736388-158736389	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142422988	chr1:158736413-158736414	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566032009	chr1:158736433-158736434	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1864346	chr1:158736445-158736446	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs370118220	chr1:158736468-158736469	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374392977	chr1:158736511-158736512	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1864347	chr1:158736517-158736518	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs142633172	chr1:158736536-158736537	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551424750	chr1:158736548-158736549	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569753588	chr1:158736574-158736575	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537185537	chr1:158736601-158736602	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75024082	chr1:158736603-158736604	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556793861	chr1:158736613-158736614	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180968379	chr1:158736670-158736671	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1429860	chr1:158736693-158736694	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554460532	chr1:158736704-158736705	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572319852	chr1:158736712-158736713	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539423924	chr1:158736724-158736725	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557763378	chr1:158736727-158736728	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186522540	chr1:158736743-158736744	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543556580	chr1:158736798-158736799	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561684504	chr1:158736858-158736859	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573788704	chr1:158736888-158736889	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540939985	chr1:158736890-158736891	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190258056	chr1:158736893-158736894	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs857829	chr1:158736957-158736958	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551387970	chr1:158736982-158736983	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534925900	chr1:158737003-158737004	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11580751	chr1:158737004-158737005	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs539536522	chr1:158737027-158737028	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549837193	chr1:158737055-158737056	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569600513	chr1:158737076-158737077	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74122462	chr1:158737104-158737105	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570511631	chr1:158737122-158737123	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568530189	chr1:158737129-158737130	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536066323	chr1:158737152-158737153	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158735200-158737800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:158737800-158740000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:158739800-158740600	Enhancers	Fetal Heart	heart
4	chr1:158740000-158741800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:158740400-158741200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:158740600-158740800	Flanking Active TSS	Fetal Heart	heart
7	chr1:158740800-158741000	Enhancers	Fetal Heart	heart
8	chr1:158741000-158741200	Flanking Active TSS	Fetal Heart	heart
9	chr1:158741200-158744400	Enhancers	Fetal Heart	heart
10	chr1:158741800-158742000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:158742000-158742600	Enhancers	K562	blood
12	chr1:158742000-158746000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:158746000-158747400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:158747400-158752200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:158748400-158748800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:158751000-158751200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:158752200-158753200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:158752600-158753400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:158752800-158753000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:158752800-158753200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:158753000-158753200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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