Variant report

Variant	esv2763883
Chromosome Location	chr5:12669547-12745934
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:15)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
2	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:
3	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:
4	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
5	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:
6	chr5:12743681..12745562-chr5:12760278..12762840,2	K562	blood:
7	chr2:127182543..127183530-chr5:12689783..12690762,2	MCF-7	breast:
8	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
9	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:
10	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
11	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:
12	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
13	chr10:102105957..102107814-chr5:12679811..12681638,2	MCF-7	breast:
14	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
15	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIO-9	chr5:12707759-12708641	l_2878_chr5:12648870-12708792_testes
2	lnc-TRIO-4	chr5:12711310-12711411	ENSG00000248131
3	lnc-TRIO-4	chr5:12711310-12711411	NONHSAT100514
4	lnc-TRIO-4	chr5:12711310-12711411	NONHSAT100511
5	lnc-TRIO-9	chr5:12708650-12708792	l_2878_chr5:12648870-12708792_testes
6	lnc-CTNND2-3	chr5:12723669-12723939	NONHSAT100517
7	lnc-TRIO-4	chr5:12711310-12711411	ENSG00000248131
8	lnc-CTNND2-3	chr5:12737810-12737969	NONHSAT100517

No data

Variant related genes	Relation type
ENSG00000099194	chromatin interactions
ENSG00000231188	chromatin interactions
CITED2	miRNA target sites
PURA	miRNA target sites

Extended variants
information (count: 2861 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2861 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532494602	chr5:12669562-12669563	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141153367	chr5:12669590-12669591	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188311032	chr5:12669616-12669617	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536320688	chr5:12669634-12669635	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552487451	chr5:12669635-12669636	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs78497339	chr5:12669642-12669643	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73744968	chr5:12669709-12669710	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371353213	chr5:12669718-12669719	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs10045767	chr5:12669736-12669737	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558731930	chr5:12669756-12669757	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577120046	chr5:12669760-12669761	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544548899	chr5:12669766-12669767	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144864545	chr5:12669771-12669772	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374560774	chr5:12669788-12669789	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574769103	chr5:12669791-12669792	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368206019	chr5:12669824-12669825	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542230545	chr5:12669839-12669840	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78070520	chr5:12669861-12669862	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371304280	chr5:12669884-12669885	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186501285	chr5:12669892-12669893	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190887707	chr5:12669893-12669894	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72733280	chr5:12669917-12669918	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs72733281	chr5:12669919-12669920	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138471915	chr5:12669939-12669940	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372139866	chr5:12669958-12669959	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569152283	chr5:12670077-12670078	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62349205	chr5:12670090-12670091	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548175721	chr5:12670110-12670111	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138540588	chr5:12670124-12670125	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10079596	chr5:12670184-12670185	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182115963	chr5:12670185-12670186	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558062602	chr5:12670210-12670211	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570748592	chr5:12670235-12670236	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552590006	chr5:12670253-12670254	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs75903340	chr5:12670282-12670283	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575093703	chr5:12670312-12670313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576317049	chr5:12670326-12670327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs543058533	chr5:12670354-12670355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561724439	chr5:12670355-12670356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs186653113	chr5:12670365-12670366	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs140219215	chr5:12670366-12670367	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371996304	chr5:12670368-12670369	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572436646	chr5:12670379-12670380	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546353874	chr5:12670385-12670386	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs565051751	chr5:12670387-12670388	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs114736213	chr5:12670388-12670389	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143505862	chr5:12670424-12670425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs36093701	chr5:12670450-12670451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147996751	chr5:12670490-12670491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369402820	chr5:12670496-12670497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12660200-12671000	Weak transcription	K562	blood
2	chr5:12668200-12672600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:12668200-12673600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:12668400-12669800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:12668400-12670000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:12668400-12670200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:12668400-12670400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:12668400-12671600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:12668600-12669800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:12668600-12670000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:12668800-12669600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
12	chr5:12668800-12669600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:12668800-12669600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:12668800-12669600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
15	chr5:12668800-12670400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:12669000-12671800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:12669600-12669800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:12669600-12670000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:12669600-12671200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:12669800-12670800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:12669800-12671000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:12669800-12671200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:12670000-12670200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr5:12670000-12672600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:12670000-12673600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:12670200-12670600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:12670200-12672600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:12670400-12671800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:12670400-12673600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:12670600-12670800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr5:12670800-12671600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:12670800-12672600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:12671000-12672000	Enhancers	K562	blood
34	chr5:12671000-12672600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:12671200-12672200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:12671200-12672400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:12671600-12671800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr5:12671600-12672600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:12671800-12672400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:12671800-12672400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:12671800-12672800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:12672200-12672600	Genic enhancers	H9 Cell Line	embryonic stem cell
43	chr5:12672400-12726000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:12672600-12673400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:12672600-12673600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:12672600-12676000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:12672600-12677200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:12672600-12677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:12672600-12683000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:12672800-12673000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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