Variant report

Variant	esv3361178
Chromosome Location	chr5:12628752-12633150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs188656718	chr5:12628778-12628779	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113614890	chr5:12628804-12628805	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201363075	chr5:12628837-12628838	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553987091	chr5:12628845-12628846	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538849091	chr5:12628854-12628855	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572303087	chr5:12628908-12628909	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73041696	chr5:12628928-12628929	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558131579	chr5:12629070-12629071	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575946586	chr5:12629101-12629102	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181199763	chr5:12629133-12629134	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543059643	chr5:12629138-12629139	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576930259	chr5:12629210-12629211	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4701943	chr5:12629245-12629246	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147696427	chr5:12629303-12629304	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76714860	chr5:12629315-12629316	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559506845	chr5:12629325-12629326	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577182036	chr5:12629332-12629333	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142385776	chr5:12629349-12629350	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372695613	chr5:12629380-12629381	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551610979	chr5:12629386-12629387	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150216198	chr5:12629403-12629404	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs145020533	chr5:12629405-12629406	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs149079104	chr5:12629431-12629432	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs572382965	chr5:12629441-12629442	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs115774095	chr5:12629449-12629450	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs112551252	chr5:12629456-12629457	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs143195518	chr5:12629468-12629469	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs7710465	chr5:12629482-12629483	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542948365	chr5:12629494-12629495	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs539649480	chr5:12629508-12629509	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs138740062	chr5:12629519-12629520	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs561260572	chr5:12629524-12629525	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs576274959	chr5:12629545-12629546	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs538056762	chr5:12629573-12629574	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs555044976	chr5:12629624-12629625	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs577235642	chr5:12629724-12629725	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs141540574	chr5:12629744-12629745	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs115129586	chr5:12629754-12629755	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs559024221	chr5:12629756-12629757	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs186125346	chr5:12629763-12629764	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs191074064	chr5:12629769-12629770	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs543800726	chr5:12629784-12629785	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs182350590	chr5:12629789-12629790	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs74585493	chr5:12629799-12629800	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs187503097	chr5:12629803-12629804	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369405401	chr5:12629822-12629823	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563977353	chr5:12629823-12629824	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531089694	chr5:12629839-12629840	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549685170	chr5:12629860-12629861	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6554737	chr5:12629865-12629866	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
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
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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12624800-12629000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr5:12625000-12630200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:12625000-12631000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr5:12625200-12629800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:12625600-12629400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:12625600-12629600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:12625600-12629600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:12625600-12629800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:12627400-12629800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr5:12627600-12629000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:12627600-12630000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr5:12628200-12636200	Weak transcription	K562	blood
13	chr5:12629000-12629400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:12629000-12629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:12629400-12629800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
16	chr5:12629400-12631600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:12629800-12630400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:12629800-12630600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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