Variant report

Variant	esv3356129
Chromosome Location	chr5:29067148-29068247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:29067592-29067660	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFYB	chr5:29067722-29067724	Hela-S3	cervix:	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: 59 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548057298	chr5:29067150-29067151	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs140614679	chr5:29067154-29067155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs374024728	chr5:29067180-29067181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs3053513	chr5:29067222-29067223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs144890266	chr5:29067223-29067224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs200473158	chr5:29067246-29067247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs59433267	chr5:29067251-29067252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201179189	chr5:29067252-29067253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs202001901	chr5:29067258-29067259	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs200457573	chr5:29067261-29067262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs484786	chr5:29067266-29067267	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182815879	chr5:29067283-29067284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs613237	chr5:29067311-29067312	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570412441	chr5:29067315-29067316	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs145348855	chr5:29067316-29067317	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs10645714	chr5:29067317-29067318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs534733259	chr5:29067349-29067350	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs543335009	chr5:29067357-29067358	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs550580701	chr5:29067364-29067365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs143683776	chr5:29067423-29067424	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs10043330	chr5:29067430-29067431	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs613692	chr5:29067431-29067432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs113303910	chr5:29067445-29067446	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs113291046	chr5:29067446-29067447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs35646549	chr5:29067447-29067448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs554861826	chr5:29067503-29067504	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs369504246	chr5:29067526-29067527	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs549103880	chr5:29067557-29067558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs576713771	chr5:29067648-29067649	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs188340852	chr5:29067652-29067653	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs545554904	chr5:29067667-29067668	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs148098805	chr5:29067711-29067712	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs191333333	chr5:29067741-29067742	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs489449	chr5:29067743-29067744	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117758094	chr5:29067781-29067782	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs199882853	chr5:29067789-29067790	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs199819997	chr5:29067790-29067791	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs574832835	chr5:29067813-29067814	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs141833936	chr5:29067883-29067884	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs374382866	chr5:29067993-29067994	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs368495016	chr5:29067994-29067995	Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs182411830	chr5:29068001-29068002	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs150701541	chr5:29068005-29068006	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs201706101	chr5:29068010-29068011	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs57789984	chr5:29068011-29068012	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs201493882	chr5:29068016-29068017	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs61330770	chr5:29068020-29068021	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138756265	chr5:29068022-29068023	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs372635177	chr5:29068024-29068025	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs200454933	chr5:29068025-29068026	Enhancers Flanking Active TSS	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29067600-29067800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr5:29067800-29068200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr5:29067800-29068200	Enhancers	Stomach Mucosa	stomach
4	chr5:29068000-29068400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr5:29068200-29068400	Active TSS	Rectal Mucosa Donor 31	rectum

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