Variant report

Variant	esv3505460
Chromosome Location	chr1:179454429-179459077
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	FOXA1	chr1:179454199-179454469	T-47D	breast:	n/a	n/a
2	KAP1	chr1:179456091-179456217	U2OS	brain:	n/a	n/a
3	SETDB1	chr1:179455933-179456401	U2OS	brain:	n/a	n/a
4	ZNF274	chr1:179456842-179457121	GM08714	blood:	n/a	n/a
5	ZNF274	chr1:179456740-179457131	NT2-D1	testis:	n/a	n/a
6	ZNF274	chr1:179456876-179457125	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179452715..179454955-chr1:179456900..179459797,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269064	TF binding region
AXDND1	TF binding region
ENSG00000269064	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12138189	chr1:179454544-179454545	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138362521	chr1:179454609-179454610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149280341	chr1:179454674-179454675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189412821	chr1:179454686-179454687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181053190	chr1:179454716-179454717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549969107	chr1:179454739-179454740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12138249	chr1:179454751-179454752	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs186422527	chr1:179454829-179454830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72704417	chr1:179454859-179454860	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs565973742	chr1:179454866-179454867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61826059	chr1:179454878-179454879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140047575	chr1:179454882-179454883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35232924	chr1:179454883-179454884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72501161	chr1:179454884-179454885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115788658	chr1:179454915-179454916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574499749	chr1:179454928-179454929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566966913	chr1:179455999-179456000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs374825995	chr1:179456024-179456025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552426158	chr1:179456051-179456052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559617949	chr1:179456052-179456053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs117375177	chr1:179456076-179456077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs148696830	chr1:179456093-179456094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs141314768	chr1:179456134-179456135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs28508518	chr1:179456190-179456191	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188955363	chr1:179456221-179456222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs190937050	chr1:179456239-179456240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111778775	chr1:179456259-179456260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs367893256	chr1:179456276-179456277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs114127823	chr1:179456286-179456287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182698911	chr1:179456313-179456314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs552626664	chr1:179456349-179456350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs534442095	chr1:179456353-179456354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535209438	chr1:179456379-179456380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs187916944	chr1:179456394-179456395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113718893	chr1:179456790-179456791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs561844601	chr1:179456806-179456807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs386637179	chr1:179456812-179456813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs9787115	chr1:179456813-179456814	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs199787091	chr1:179456834-179456835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs78964829	chr1:179456839-179456840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs377355389	chr1:179456845-179456846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532750465	chr1:179456941-179456942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs9786979	chr1:179456987-179456988	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs566224795	chr1:179457047-179457048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534906428	chr1:179457058-179457059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs71114524	chr1:179457131-179457132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	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
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD

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

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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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