Variant report

Variant	nsv824975
Chromosome Location	chr1:158736032-158736653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr1:158736442-158736467	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158736312-158736362	HepG2	liver:	n/a
2	chr1:158736112-158736162	NHBE	bronchial:	n/a
3	chr1:158736312-158736362	HCF	heart:	n/a
4	chr1:158736312-158736362	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:158736112-158736162	AG04449	skin:	fetal
6	chr1:158736112-158736162	HCPEpiC	choroid plexus:	n/a
7	chr1:158736112-158736162	HCT-116	colon:	n/a
8	chr1:158736112-158736162	HMEC	breast:	n/a
9	chr1:158736112-158736162	SK-N-SH_RA	brain:	n/a
10	chr1:158736312-158736362	HIPEpiC	eye:	n/a
11	chr1:158736112-158736162	ProgFib	skin:	n/a
12	chr1:158736112-158736162	HCF	heart:	n/a
13	chr1:158736312-158736362	T-47D	breast:	n/a
14	chr1:158736112-158736162	SKMC	muscle:	n/a
15	chr1:158736112-158736162	HAEpiC	amniotic membrane:	n/a
16	chr1:158736112-158736162	RPTEC	kidney:	n/a
17	chr1:158736312-158736362	Caco-2	colon:	n/a
18	chr1:158736312-158736362	HNPCEpiC	eye:	n/a
19	chr1:158736112-158736162	Hepatocyte	liver:	n/a
20	chr1:158736312-158736362	NH-A	brain:	n/a
21	chr1:158736112-158736162	PFSK-1	brain:	n/a
22	chr1:158736112-158736162	HepG2	liver:	n/a
23	chr1:158736312-158736362	HL-60	blood:	n/a
24	chr1:158736112-158736162	GM12878	blood:	n/a
25	chr1:158736112-158736162	GM12892	blood:	n/a
26	chr1:158736112-158736162	AoSMC	blood vessel:	n/a
27	chr1:158736312-158736362	NT2-D1	testis:	n/a
28	chr1:158736112-158736162	HEK293	kidney:	embryo
29	chr1:158736112-158736162	SK-N-MC	brain:	n/a
30	chr1:158736312-158736362	BJ	skin:	n/a
31	chr1:158736312-158736362	GM19239	blood:	n/a
32	chr1:158736312-158736362	Hepatocyte	liver:	n/a
33	chr1:158736312-158736362	MCF-7	breast:	n/a
34	chr1:158736312-158736362	PFSK-1	brain:	n/a
35	chr1:158736312-158736362	PANC-1	pancreas:	n/a
36	chr1:158736112-158736162	SK-N-SH	brain:	n/a
37	chr1:158736312-158736362	HMEC	breast:	n/a
38	chr1:158736112-158736162	HNPCEpiC	eye:	n/a
39	chr1:158736312-158736362	A549	lung:	n/a
40	chr1:158736312-158736362	AG04449	skin:	fetal
41	chr1:158736312-158736362	AG09309	skin:	n/a
42	chr1:158736112-158736162	A549	lung:	n/a
43	chr1:158736312-158736362	HRCEpiC	kidney:	n/a
44	chr1:158736112-158736162	BE2_C	brain:	n/a
45	chr1:158736112-158736162	GM12891	blood:	n/a
46	chr1:158736112-158736162	AG10803	skin:	n/a
47	chr1:158736112-158736162	HUVEC	blood vessel:	n/a
48	chr1:158736112-158736162	NH-A	brain:	n/a
49	chr1:158736312-158736362	NB4	blood:	n/a
50	chr1:158736112-158736162	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158733358..158736133-chr1:158736433..158738088,2	K562	blood:

No data

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

Extended variants
information (count: 53 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370604752	chr1:158736055-158736056	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201929768	chr1:158736057-158736058	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549634587	chr1:158736058-158736059	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200988887	chr1:158736062-158736063	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201157423	chr1:158736064-158736065	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114295831	chr1:158736068-158736069	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200022523	chr1:158736072-158736073	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375461321	chr1:158736082-158736083	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185614552	chr1:158736083-158736084	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201930900	chr1:158736090-158736091	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370632064	chr1:158736091-158736092	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371210885	chr1:158736094-158736095	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375506841	chr1:158736095-158736096	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367811958	chr1:158736110-158736111	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145448358	chr1:158736112-158736113	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374981578	chr1:158736113-158736114	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs202200321	chr1:158736135-158736136	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200953910	chr1:158736146-158736147	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549155175	chr1:158736155-158736156	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375079922	chr1:158736158-158736159	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369750533	chr1:158736175-158736176	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149823903	chr1:158736197-158736198	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7521578	chr1:158736201-158736202	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145865150	chr1:158736203-158736204	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200212713	chr1:158736209-158736210	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143504576	chr1:158736213-158736214	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6666753	chr1:158736215-158736216	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs857828	chr1:158736217-158736218	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373696554	chr1:158736227-158736228	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563675554	chr1:158736263-158736264	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553836664	chr1:158736272-158736273	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113836910	chr1:158736275-158736276	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376841145	chr1:158736301-158736302	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572416173	chr1:158736312-158736313	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189383486	chr1:158736313-158736314	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147418101	chr1:158736319-158736320	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200723413	chr1:158736342-158736343	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148423405	chr1:158736345-158736346	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201712486	chr1:158736361-158736362	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200626708	chr1:158736375-158736376	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144309988	chr1:158736388-158736389	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142422988	chr1:158736413-158736414	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566032009	chr1:158736433-158736434	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1864346	chr1:158736445-158736446	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs370118220	chr1:158736468-158736469	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374392977	chr1:158736511-158736512	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1864347	chr1:158736517-158736518	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs142633172	chr1:158736536-158736537	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551424750	chr1:158736548-158736549	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569753588	chr1:158736574-158736575	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158735200-158737800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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