Variant report

Variant	esv2445879
Chromosome Location	chr5:29068601-29071153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
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	ARID3A	chr5:29070987-29071060	K562	blood:	n/a	n/a
2	FOXA1	chr5:29068731-29069068	HepG2	liver:	n/a	n/a
3	JUN	chr5:29070574-29070705	K562	blood:	n/a	n/a
4	MXI1	chr5:29070547-29070574	K562	blood:	n/a	n/a
5	NFYB	chr5:29068912-29069112	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:29069125-29069157	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:29059482..29062466-chr5:29065874..29068673,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-3	chr5:29066381-29070363	NR_109948
2	lnc-CDH6-3	chr5:29066381-29070363	ENSG00000249322

No data

Variant related genes	Relation type
ENSG00000252601	TF binding region
CBFB	miRNA target sites

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	rs74454748	chr5:29068619-29068620	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs575479840	chr5:29068621-29068622	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs569109135	chr5:29068630-29068631	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs55882562	chr5:29068639-29068640	Active TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557895172	chr5:29068649-29068650	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs656260	chr5:29068698-29068699	Active TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528392971	chr5:29068717-29068718	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs577615663	chr5:29068719-29068720	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs540272571	chr5:29068768-29068769	Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs185693995	chr5:29068774-29068775	Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs74682341	chr5:29068786-29068787	Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs550369541	chr5:29068829-29068830	Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs520652	chr5:29068889-29068890	Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544662217	chr5:29068952-29068953	Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs552349411	chr5:29068963-29068964	Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs553844282	chr5:29068981-29068982	Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs556477787	chr5:29069015-29069016	Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs570848245	chr5:29069036-29069037	Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs534943535	chr5:29069054-29069055	Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs658439	chr5:29069162-29069163	Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs523336	chr5:29069169-29069170	Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535963245	chr5:29069183-29069184	Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs557210908	chr5:29069221-29069222	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs556918172	chr5:29069237-29069238	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs2932806	chr5:29069260-29069261	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546068506	chr5:29069269-29069270	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs557975681	chr5:29069306-29069307	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs373692692	chr5:29069317-29069318	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs114605869	chr5:29069386-29069387	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs116525614	chr5:29069479-29069480	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs189824986	chr5:29069499-29069500	Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs149476616	chr5:29069627-29069628	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs150936605	chr5:29069631-29069632	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs561746735	chr5:29069637-29069638	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs545280379	chr5:29069657-29069658	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs528915196	chr5:29069658-29069659	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs544173104	chr5:29069659-29069660	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs555536699	chr5:29069665-29069666	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs200348998	chr5:29069669-29069670	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs251070	chr5:29069673-29069674	Active TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370501733	chr5:29069674-29069675	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs188517173	chr5:29069675-29069676	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs552359947	chr5:29069691-29069692	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs570661996	chr5:29069702-29069703	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200934195	chr5:29069723-29069724	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs528778714	chr5:29069795-29069796	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs73747184	chr5:29069819-29069820	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs544296774	chr5:29069845-29069846	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs546941115	chr5:29069854-29069855	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs568724365	chr5:29069872-29069873	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29068400-29068800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:29068400-29069200	Enhancers	Pancreas	Pancrea
3	chr5:29068400-29069200	Enhancers	HepG2	liver
4	chr5:29068400-29070200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr5:29068600-29069000	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr5:29068600-29069000	Active TSS	Stomach Mucosa	stomach
7	chr5:29069000-29069200	Flanking Active TSS	Stomach Mucosa	stomach
8	chr5:29069000-29069400	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:29069000-29069600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr5:29069200-29069600	Enhancers	Stomach Mucosa	stomach
11	chr5:29069600-29070800	Enhancers	Rectal Mucosa Donor 31	rectum

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