Variant report

Variant	nsv597166
Chromosome Location	chr5:12713913-12738223
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
2	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
3	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
4	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTNND2-3	chr5:12737810-12737969	NONHSAT100517
2	lnc-CTNND2-3	chr5:12723669-12723939	NONHSAT100517

No data

Extended variants
information (count: 845 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4613709	chr5:12713913-12713914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542110918	chr5:12713916-12713917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142488304	chr5:12713930-12713931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527322279	chr5:12713933-12713934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191342377	chr5:12713947-12713948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569437787	chr5:12713964-12713965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373630238	chr5:12713970-12713971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182759728	chr5:12713974-12713975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531923401	chr5:12714019-12714020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370424389	chr5:12714037-12714038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568663591	chr5:12714038-12714039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535730156	chr5:12714041-12714042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187833322	chr5:12714051-12714052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565927328	chr5:12714052-12714053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564407234	chr5:12714082-12714083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192144453	chr5:12714083-12714084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373292618	chr5:12714095-12714096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557808595	chr5:12714131-12714132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528551038	chr5:12714137-12714138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576164227	chr5:12714193-12714194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575091069	chr5:12714354-12714355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377570466	chr5:12714368-12714369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556037666	chr5:12714379-12714380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574583673	chr5:12714393-12714394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150928849	chr5:12714418-12714419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554080352	chr5:12714433-12714434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577466328	chr5:12714451-12714452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142114619	chr5:12714475-12714476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545846150	chr5:12714510-12714511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564084506	chr5:12714520-12714521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199614063	chr5:12714546-12714547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145845807	chr5:12714555-12714556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543548200	chr5:12714564-12714565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7731457	chr5:12714599-12714600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529534303	chr5:12714638-12714639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147938545	chr5:12714647-12714648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141714019	chr5:12714659-12714660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533140297	chr5:12714799-12714800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551328134	chr5:12714869-12714870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185772853	chr5:12714894-12714895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200522644	chr5:12714902-12714903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34977802	chr5:12714903-12714904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6871697	chr5:12714904-12714905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368333803	chr5:12714918-12714919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547908104	chr5:12714932-12714933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4702898	chr5:12714933-12714934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192232551	chr5:12714965-12714966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6871390	chr5:12714968-12714969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546143461	chr5:12715002-12715003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367560303	chr5:12715003-12715004	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12672400-12726000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:12699000-12717600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:12713400-12717600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:12713400-12727200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:12713600-12716800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:12716400-12716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:12716800-12718400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:12716800-12718400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:12717000-12718400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:12717200-12717600	ZNF genes & repeats	Gastric	stomach
11	chr5:12717600-12717800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr5:12717600-12718200	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr5:12718200-12718400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr5:12718400-12719000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:12718400-12720000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:12731400-12731600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:12731600-12739000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:12732200-12732800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:12738200-12739400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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