Variant report

Variant	esv3337889
Chromosome Location	chr5:17480552-17481650
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	GTF2F1	chr5:17481644-17481658	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000251304	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546533203	chr5:17480552-17480553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111939199	chr5:17480559-17480560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532400922	chr5:17480603-17480604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552237281	chr5:17480642-17480643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569219220	chr5:17480709-17480710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538339866	chr5:17480745-17480746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185321902	chr5:17480771-17480772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564997328	chr5:17480774-17480775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568677816	chr5:17480805-17480806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190268640	chr5:17480830-17480831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139318132	chr5:17480834-17480835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554530715	chr5:17480862-17480863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536818719	chr5:17480893-17480894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372183510	chr5:17480915-17480916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201115298	chr5:17480917-17480918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112152372	chr5:17480921-17480922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199899446	chr5:17480927-17480928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67178611	chr5:17480928-17480929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201137024	chr5:17480931-17480932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70947606	chr5:17480935-17480936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544984397	chr5:17480986-17480987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202076354	chr5:17480991-17480992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558542894	chr5:17481010-17481011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575205590	chr5:17481106-17481107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72740570	chr5:17481173-17481174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116140458	chr5:17481184-17481185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529948918	chr5:17481186-17481187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200450355	chr5:17481211-17481212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551850127	chr5:17481234-17481235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111548173	chr5:17481240-17481241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570851047	chr5:17481300-17481301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533844915	chr5:17481361-17481362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532290229	chr5:17481455-17481456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367560518	chr5:17481457-17481458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552124964	chr5:17481458-17481459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187502694	chr5:17481490-17481491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531702314	chr5:17481492-17481493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371846482	chr5:17481529-17481530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568538545	chr5:17481536-17481537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534427039	chr5:17481585-17481586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4702216	chr5:17481599-17481600	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs528016443	chr5:17481642-17481643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19287141	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17476400-17486200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:17480600-17480800	Enhancers	Fetal Kidney	kidney
3	chr5:17481400-17481600	Enhancers	Fetal Kidney	kidney
4	chr5:17481400-17482000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:17481400-17482000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:17481400-17482000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:17481400-17482000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:17481400-17482000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:17481400-17482200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:17481400-17483000	Enhancers	A549	lung
11	chr5:17481600-17481800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:17481600-17482000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:17481600-17482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:17481600-17482000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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