Variant report

Variant	esv3325778
Chromosome Location	chr5:50232395-50240693
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	JUND	chr5:50232314-50232526	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:50232414-50232619	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:50233143-50233172	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:50227478..50230397-chr5:50232947..50234974,2	MCF-7	breast:
2	chr12:99592032..99592637-chr5:50232515..50233131,2	MCF-7	breast:
3	chr5:50228151..50230751-chr5:50231157..50233024,2	K562	blood:
4	chr5:50233489..50235241-chr5:50248596..50251574,2	K562	blood:

Variant related genes	Relation type
ENSG00000251601	TF binding region
ENSG00000251601	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16887778	chr5:50232403-50232404	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568350393	chr5:50232465-50232466	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561878188	chr5:50232492-50232493	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150752801	chr5:50232499-50232500	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553824681	chr5:50232507-50232508	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs27248	chr5:50232547-50232548	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs539207948	chr5:50232566-50232567	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188321657	chr5:50232574-50232575	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201968951	chr5:50232593-50232594	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs27249	chr5:50232678-50232679	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs541737989	chr5:50232750-50232751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539974861	chr5:50232754-50232755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191013468	chr5:50232756-50232757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571911465	chr5:50232828-50232829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9686639	chr5:50232878-50232879	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552742008	chr5:50232925-50232926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111251407	chr5:50232954-50232955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533066913	chr5:50232975-50232976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143858684	chr5:50232998-50232999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377077544	chr5:50233056-50233057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182862888	chr5:50233136-50233137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531958321	chr5:50233165-50233166	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139975139	chr5:50233172-50233173	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs151997	chr5:50233199-50233200	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
25	rs80267506	chr5:50233261-50233262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547399460	chr5:50233289-50233290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554903661	chr5:50233304-50233305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs116243709	chr5:50233374-50233375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539543421	chr5:50233474-50233475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62367363	chr5:50233488-50233489	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375724236	chr5:50233493-50233494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369420426	chr5:50233506-50233507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187769596	chr5:50233527-50233528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562123102	chr5:50233566-50233567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568191334	chr5:50233589-50233590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572308193	chr5:50233620-50233621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs152699	chr5:50233622-50233623	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557775274	chr5:50233642-50233643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541774802	chr5:50233649-50233650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577756894	chr5:50233665-50233666	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372555757	chr5:50233670-50233671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376042486	chr5:50233671-50233672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543520015	chr5:50233716-50233717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563414735	chr5:50233726-50233727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143443427	chr5:50233737-50233738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542414806	chr5:50233741-50233742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191235099	chr5:50233828-50233829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527970605	chr5:50233882-50233883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547730290	chr5:50233900-50233901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564118951	chr5:50233927-50233928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	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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