Variant report

Variant	esv3400079
Chromosome Location	chr5:29729244-29762382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:29734347..29737280-chr5:29739042..29740849,2	MCF-7	breast:
2	chr5:29192802..29195589-chr5:29735604..29737359,2	K562	blood:
3	chr5:29729555..29730090-chr5:29750459..29751020,2	MCF-7	breast:
4	chr4:181350073..181352059-chr5:29762233..29764064,2	MCF-7	breast:
5	chr5:29729555..29730090-chr5:29750459..29751020,2	MCF-7	breast:
6	chr5:29734347..29737280-chr5:29739042..29740849,2	MCF-7	breast:
7	chr5:29732562..29734284-chr5:29734995..29736841,2	K562	blood:
8	chr5:29732562..29734284-chr5:29734995..29736841,2	K562	blood:

No data

Extended variants
information (count: 166 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374046973	chr5:29744411-29744412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187492001	chr5:29744443-29744444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144702070	chr5:29744460-29744461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190284517	chr5:29744488-29744489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543543489	chr5:29744537-29744538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575655811	chr5:29744595-29744596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80129942	chr5:29744613-29744614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534622058	chr5:29744635-29744636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4391185	chr5:29744658-29744659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568341592	chr5:29744701-29744702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139871026	chr5:29744711-29744712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557159278	chr5:29744713-29744714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575435458	chr5:29744736-29744737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13156377	chr5:29744753-29744754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75157664	chr5:29744769-29744770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572839110	chr5:29744772-29744773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539842648	chr5:29744809-29744810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559644768	chr5:29744820-29744821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577004218	chr5:29744843-29744844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79346393	chr5:29744845-29744846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574774835	chr5:29744860-29744861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4523013	chr5:29744864-29744865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182511925	chr5:29744956-29744957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530913687	chr5:29744960-29744961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552600257	chr5:29745000-29745001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189400827	chr5:29751407-29751408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554909254	chr5:29751418-29751419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560334462	chr5:29751494-29751495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568436604	chr5:29751540-29751541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535728267	chr5:29751546-29751547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557541639	chr5:29751579-29751580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568219958	chr5:29751583-29751584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575793880	chr5:29751591-29751592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111690422	chr5:29751597-29751598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540001348	chr5:29751604-29751605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537349370	chr5:29751612-29751613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573339017	chr5:29751621-29751622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540651156	chr5:29751658-29751659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562014879	chr5:29751675-29751676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182088125	chr5:29751695-29751696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149088632	chr5:29751717-29751718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368427593	chr5:29751724-29751725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186743170	chr5:29751785-29751786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191572938	chr5:29751792-29751793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574556623	chr5:29758655-29758656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76674626	chr5:29758672-29758673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569948250	chr5:29758718-29758719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540333800	chr5:29758771-29758772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527700141	chr5:29758813-29758814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146972672	chr5:29758815-29758816	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29744400-29745000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:29751400-29751800	Enhancers	Fetal Intestine Small	intestine
3	chr5:29758600-29759000	Enhancers	HepG2	liver
4	chr5:29759000-29759200	Active TSS	Liver	Liver
5	chr5:29759000-29759200	Flanking Active TSS	HepG2	liver
6	chr5:29759000-29759600	Enhancers	Fetal Intestine Large	intestine
7	chr5:29759000-29759600	Active TSS	A549	lung
8	chr5:29759200-29759400	Flanking Active TSS	Liver	Liver
9	chr5:29759200-29759600	Enhancers	Fetal Intestine Small	intestine
10	chr5:29759200-29759600	Active TSS	HepG2	liver
11	chr5:29759600-29760000	Weak transcription	Fetal Intestine Large	intestine
12	chr5:29759600-29761200	Enhancers	HepG2	liver
13	chr5:29760200-29760400	Enhancers	Fetal Intestine Large	intestine
14	chr5:29760200-29760400	Enhancers	A549	lung
15	chr5:29760400-29761200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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