Variant report

Variant	esv3452529
Chromosome Location	chr1:158516668-158521840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
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	IRF1	chr1:158520619-158520627	K562	blood:	n/a	n/a
2	JUN	chr1:158521090-158521284	K562	blood:	n/a	n/a
3	MAFF	chr1:158520260-158520451	HepG2	liver:	n/a	n/a
4	MAFF	chr1:158520698-158520848	HepG2	liver:	n/a	n/a
5	MAFK	chr1:158520227-158520427	HepG2	liver:	n/a	chr1:158520329-158520345 chr1:158520330-158520341 chr1:158520328-158520342 chr1:158520329-158520340 chr1:158520329-158520340
6	STAT3	chr1:158520702-158520759	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158517849-158517899	GM12878	blood:	n/a
2	chr1:158517489-158517539	GM12891	blood:	n/a
3	chr1:158517849-158517899	BE2_C	brain:	n/a
4	chr1:158517489-158517539	HL-60	blood:	n/a
5	chr1:158517849-158517899	PrEC	prostate:	n/a
6	chr1:158517849-158517899	PANC-1	pancreas:	n/a
7	chr1:158517489-158517539	ECC-1	luminal epithelium:	n/a
8	chr1:158518363-158518413	SK-N-SH	brain:	n/a
9	chr1:158518363-158518413	IMR90	lung:	fetal
10	chr1:158517849-158517899	AG04449	skin:	fetal
11	chr1:158518363-158518413	GM12891	blood:	n/a
12	chr1:158517849-158517899	SAEC	small airway:	n/a
13	chr1:158518363-158518413	SKMC	muscle:	n/a
14	chr1:158518363-158518413	SK-N-MC	brain:	n/a
15	chr1:158518363-158518413	PrEC	prostate:	n/a
16	chr1:158518363-158518413	MCF10A-Er-Src	breast:	n/a
17	chr1:158517849-158517899	MCF-7	breast:	n/a
18	chr1:158517489-158517539	A549	lung:	n/a
19	chr1:158517489-158517539	HEK293	kidney:	embryo
20	chr1:158517489-158517539	K562	blood:	n/a
21	chr1:158517489-158517539	Hepatocyte	liver:	n/a
22	chr1:158517849-158517899	MCF10A-Er-Src	breast:	n/a
23	chr1:158517489-158517539	Caco-2	colon:	n/a
24	chr1:158517489-158517539	HNPCEpiC	eye:	n/a
25	chr1:158518363-158518413	HMEC	breast:	n/a
26	chr1:158517849-158517899	HCF	heart:	n/a
27	chr1:158517849-158517899	SK-N-SH_RA	brain:	n/a
28	chr1:158518363-158518413	HCF	heart:	n/a
29	chr1:158518363-158518413	K562	blood:	n/a
30	chr1:158517849-158517899	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:158518363-158518413	MCF-7	breast:	n/a
32	chr1:158517489-158517539	Jurkat	blood:	n/a
33	chr1:158517489-158517539	IMR90	lung:	fetal
34	chr1:158517849-158517899	NT2-D1	testis:	n/a
35	chr1:158517489-158517539	HUVEC	blood vessel:	n/a
36	chr1:158517849-158517899	T-47D	breast:	n/a
37	chr1:158518363-158518413	HRE	kidney:	n/a
38	chr1:158517849-158517899	BJ	skin:	n/a
39	chr1:158517489-158517539	NHBE	bronchial:	n/a
40	chr1:158518363-158518413	HNPCEpiC	eye:	n/a
41	chr1:158517489-158517539	Hela-S3	cervix:	n/a
42	chr1:158518363-158518413	Hela-S3	cervix:	n/a
43	chr1:158518363-158518413	U87	brain:	n/a
44	chr1:158518363-158518413	A549	lung:	n/a
45	chr1:158518363-158518413	T-47D	breast:	n/a
46	chr1:158517849-158517899	Hela-S3	cervix:	n/a
47	chr1:158517849-158517899	GM12892	blood:	n/a
48	chr1:158518363-158518413	HEK293	kidney:	embryo
49	chr1:158517489-158517539	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:158517489-158517539	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158508197..158510777-chr1:158515313..158516870,2	K562	blood:

No data

Variant related genes	Relation type
OR6Y1	TF binding region
OR6Y1	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75775105	chr1:158518390-158518391	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs141594995	chr1:158518396-158518397	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs191236221	chr1:158520252-158520253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561723916	chr1:158520260-158520261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573740127	chr1:158520325-158520326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs574067359	chr1:158520366-158520367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs114261718	chr1:158520372-158520373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543029852	chr1:158520398-158520399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs183826704	chr1:158520403-158520404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs9804005	chr1:158520414-158520415	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542503730	chr1:158520427-158520428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs151011555	chr1:158520440-158520441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564815672	chr1:158520446-158520447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs555589531	chr1:158520717-158520718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs6697656	chr1:158520737-158520738	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs113267175	chr1:158521114-158521115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150407267	chr1:158521209-158521210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs564480501	chr1:158521247-158521248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531682953	chr1:158521263-158521264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181456155	chr1:158521278-158521279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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