Variant report

Variant	esv3443840
Chromosome Location	chr5:60000970-60004693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:60004676-60004744	HepG2	liver:	n/a	chr5:60004699-60004710
2	POLR2A	chr5:60004667-60004883	K562	blood:	n/a	n/a
3	POLR2A	chr5:60002488-60002528	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
2	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
3	chr5:59994459..59997012-chr5:59999943..60002207,3	K562	blood:
4	chr5:59994018..59997409-chr5:59998010..60001591,3	MCF-7	breast:
5	chr5:59994459..59997087-chr5:60000577..60002875,2	K562	blood:
6	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
7	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
8	chr5:59984165..59985932-chr5:59998391..60001093,2	K562	blood:
9	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:
10	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
11	chr5:59998583..60001649-chr5:60008376..60010857,3	K562	blood:

No data

Variant related genes	Relation type
DEPDC1B	TF binding region
ENSG00000035499	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573325390	chr5:60000976-60000977	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535873054	chr5:60001024-60001025	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555725496	chr5:60001030-60001031	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375520038	chr5:60001043-60001044	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs897673	chr5:60001052-60001053	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183447889	chr5:60001116-60001117	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4370226	chr5:60001122-60001123	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs572166359	chr5:60001146-60001147	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541185043	chr5:60001218-60001219	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77535947	chr5:60001271-60001272	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139205958	chr5:60001273-60001274	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550236538	chr5:60001282-60001283	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563667962	chr5:60001357-60001358	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145204198	chr5:60001385-60001386	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534460782	chr5:60001387-60001388	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552796084	chr5:60001447-60001448	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373954292	chr5:60001553-60001554	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187682520	chr5:60001567-60001568	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10939862	chr5:60001644-60001645	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs150493260	chr5:60001708-60001709	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147618352	chr5:60001790-60001791	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs72644101	chr5:60001804-60001805	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566817997	chr5:60001843-60001844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35108782	chr5:60001844-60001845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75114046	chr5:60001899-60001900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs58971637	chr5:60001936-60001937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144334238	chr5:60002008-60002009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111267646	chr5:60002053-60002054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145458518	chr5:60002054-60002055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116551488	chr5:60002066-60002067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538568984	chr5:60002067-60002068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558783993	chr5:60002193-60002194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs55871236	chr5:60002203-60002204	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79720661	chr5:60002211-60002212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541259868	chr5:60002254-60002255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192237520	chr5:60002309-60002310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575030429	chr5:60002371-60002372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574164243	chr5:60002373-60002374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10708094	chr5:60002378-60002379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184220138	chr5:60002466-60002467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs72644102	chr5:60002488-60002489	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73759384	chr5:60002500-60002501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552614971	chr5:60002533-60002534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34840362	chr5:60002552-60002553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560023378	chr5:60002730-60002731	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200248453	chr5:60002765-60002766	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188066540	chr5:60002774-60002775	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560053882	chr5:60002794-60002795	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568313976	chr5:60002901-60002902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62370884	chr5:60002996-60002997	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59996800-60001800	Enhancers	Placenta	Placenta
2	chr5:60001800-60002600	Weak transcription	Placenta	Placenta
3	chr5:60002600-60003400	Enhancers	Placenta	Placenta
4	chr5:60003400-60005800	Weak transcription	Placenta	Placenta

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