Variant report

Variant	nsv881450
Chromosome Location	chr5:12643099-12783665
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:43)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12779777..12782009-chr5:12783141..12784661,2	MCF-7	breast:
2	chr5:12637154..12639145-chr5:12647301..12649033,2	K562	blood:
3	chr5:12778478..12781516-chr5:12781802..12783481,3	K562	blood:
4	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:
5	chr5:12757621..12760058-chr5:12760754..12763671,2	K562	blood:
6	chr2:127182543..127183530-chr5:12689783..12690762,2	MCF-7	breast:
7	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:
8	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
9	chr5:12743681..12745562-chr5:12760278..12762840,2	K562	blood:
10	chr5:12652956..12655094-chr5:12656361..12658712,2	MCF-7	breast:
11	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
12	chr5:12653349..12655490-chr5:12663314..12666064,2	K562	blood:
13	chr5:12743681..12745562-chr5:12760278..12762840,2	K562	blood:
14	chr5:12760900..12763053-chr5:12763056..12765696,2	K562	blood:
15	chr5:12647069..12649041-chr5:12653810..12656965,3	K562	blood:
16	chr5:12652956..12655094-chr5:12656361..12658712,2	MCF-7	breast:
17	chr5:12576312..12579149-chr5:12776108..12778231,2	K562	blood:
18	chr5:12660866..12661403-chr5:12804029..12804604,2	MCF-7	breast:
19	chr5:12753835..12756890-chr5:12758646..12760837,3	K562	blood:
20	chr5:12760900..12763053-chr5:12763056..12765696,2	K562	blood:
21	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:
22	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
23	chr5:12652370..12654399-chr5:12657778..12661483,4	K562	blood:
24	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:
25	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:
26	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
27	chr5:12780362..12783052-chr5:12785644..12787505,2	K562	blood:
28	chr5:12579463..12582015-chr5:12766907..12769227,3	K562	blood:
29	chr5:12652370..12654399-chr5:12657778..12661483,4	K562	blood:
30	chr5:12779777..12782009-chr5:12783141..12784661,2	MCF-7	breast:
31	chr5:12654971..12655664-chr8:60884734..60885526,2	MCF-7	breast:
32	chr5:12753835..12756890-chr5:12758646..12760837,3	K562	blood:
33	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
34	chr5:12757621..12760058-chr5:12760754..12763671,2	K562	blood:
35	chr5:12778478..12781516-chr5:12781802..12783481,3	K562	blood:
36	chr1:153295251..153295999-chr5:12761269..12762010,2	MCF-7	breast:
37	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:
38	chr5:12768829..12771225-chr5:12773503..12776685,3	K562	blood:
39	chr5:12768829..12771225-chr5:12773503..12776685,3	K562	blood:
40	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
41	chr5:12647069..12649041-chr5:12653810..12656965,3	K562	blood:
42	chr10:102105957..102107814-chr5:12679811..12681638,2	MCF-7	breast:
43	chr5:12653349..12655490-chr5:12663314..12666064,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIO-4	chr5:12711310-12711411	NONHSAT100511
2	lnc-CTNND2-3	chr5:12653170-12654688	NONHSAT100517
3	lnc-TRIO-4	chr5:12711310-12711411	ENSG00000248131
4	lnc-CTNND2-3	chr5:12659546-12660157	NONHSAT100517
5	lnc-TRIO-4	chr5:12711310-12711411	NONHSAT100514
6	lnc-TRIO-9	chr5:12708650-12708792	l_2878_chr5:12648870-12708792_testes
7	lnc-TRIO-9	chr5:12707759-12708641	l_2878_chr5:12648870-12708792_testes
8	lnc-CTNND2-3	chr5:12657511-12658227	NONHSAT100517
9	lnc-CTNND2-3	chr5:12663441-12664022	NONHSAT100517
10	lnc-CTNND2-3	chr5:12737810-12737969	NONHSAT100517
11	lnc-TRIO-4	chr5:12654759-12655799	ENSG00000248131
12	lnc-TRIO-9	chr5:12648871-12648890	l_2878_chr5:12648870-12708792_testes
13	lnc-TRIO-4	chr5:12759471-12759760	ENSG00000248131
14	lnc-TRIO-4	chr5:12711310-12711411	ENSG00000248131
15	lnc-CTNND2-3	chr5:12723669-12723939	NONHSAT100517

No data

Variant related genes	Relation type
ENSG00000099194	chromatin interactions
ENSG00000231188	chromatin interactions
CITED2	miRNA target sites
NIN	miRNA target sites
TRIM44	miRNA target sites
PURA	miRNA target sites

Extended variants
information (count: 4099 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:4099 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10063957	chr5:12643099-12643100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10070984	chr5:12643113-12643114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541356241	chr5:12643137-12643138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560031621	chr5:12643194-12643195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533155026	chr5:12643220-12643221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185565807	chr5:12643261-12643262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563690635	chr5:12643262-12643263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530989006	chr5:12643280-12643281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549502864	chr5:12643283-12643284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568259691	chr5:12643284-12643285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151154564	chr5:12643328-12643329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547359821	chr5:12643332-12643333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565992730	chr5:12643359-12643360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553352432	chr5:12643364-12643365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189981093	chr5:12643370-12643371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369479257	chr5:12643387-12643388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569319633	chr5:12643391-12643392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536699965	chr5:12643414-12643415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555088042	chr5:12643427-12643428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34422728	chr5:12643431-12643432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78261380	chr5:12643518-12643519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58520287	chr5:12643532-12643533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371960367	chr5:12643556-12643557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369706686	chr5:12643571-12643572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140068368	chr5:12643593-12643594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187521615	chr5:12643731-12643732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545726195	chr5:12643778-12643779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543876602	chr5:12643820-12643821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192487956	chr5:12643859-12643860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4702890	chr5:12643875-12643876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183825264	chr5:12643891-12643892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188892012	chr5:12643921-12643922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529057133	chr5:12643928-12643929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547540079	chr5:12643952-12643953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559298893	chr5:12643955-12643956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533212055	chr5:12643989-12643990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551264671	chr5:12643990-12643991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146962319	chr5:12643993-12643994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148320471	chr5:12644003-12644004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371649382	chr5:12644032-12644033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532934516	chr5:12644062-12644063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548649138	chr5:12644082-12644083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538733954	chr5:12644161-12644162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567380988	chr5:12644163-12644164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12518818	chr5:12644215-12644216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs137974806	chr5:12644225-12644226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552718202	chr5:12644283-12644284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192906556	chr5:12644288-12644289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539338489	chr5:12644300-12644301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182932809	chr5:12644312-12644313	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:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12636600-12643800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:12636600-12659200	Weak transcription	K562	blood
3	chr5:12636800-12655600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:12643800-12644600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:12644200-12644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:12644200-12644800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:12644400-12644600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:12644600-12657000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:12644600-12658400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:12644800-12654800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:12648400-12654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:12650400-12658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:12651000-12654600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:12652800-12654600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:12653200-12663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:12654400-12662800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:12654600-12656600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:12654600-12661800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr5:12654800-12659800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:12655000-12659800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:12655600-12656800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:12656600-12658200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:12656800-12658200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:12657000-12657600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:12657600-12658000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:12658000-12661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:12658200-12661400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:12658200-12662000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:12658400-12660000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:12658800-12660400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:12658800-12661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:12659200-12659400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:12659200-12660200	ZNF genes & repeats	K562	blood
34	chr5:12659200-12661400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:12659400-12663400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:12659600-12661800	Weak transcription	Right Atrium	heart
37	chr5:12659800-12660400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:12659800-12661400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:12660000-12660600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:12660200-12671000	Weak transcription	K562	blood
41	chr5:12660400-12661400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:12660400-12661400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:12660600-12662800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:12661400-12661800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:12661400-12661800	Genic enhancers	H9 Cell Line	embryonic stem cell
46	chr5:12661400-12661800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:12661400-12661800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr5:12661400-12661800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:12661800-12662000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:12661800-12662400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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