Variant report

Variant	nsv1018954
Chromosome Location	chr5:12619289-12734092
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:32)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12612602..12617488-chr5:12617661..12622972,6	K562	blood:
2	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
3	chr5:12608674..12611130-chr5:12636501..12638880,2	K562	blood:
4	chr5:12637154..12639145-chr5:12647301..12649033,2	K562	blood:
5	chr5:12637921..12640108-chr5:12640320..12642573,2	K562	blood:
6	chr5:12637921..12640108-chr5:12640320..12642573,2	K562	blood:
7	chr5:12614374..12617488-chr5:12617619..12619777,3	K562	blood:
8	chr5:12654971..12655664-chr8:60884734..60885526,2	MCF-7	breast:
9	chr5:12660866..12661403-chr5:12804029..12804604,2	MCF-7	breast:
10	chr5:12647069..12649041-chr5:12653810..12656965,3	K562	blood:
11	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:
12	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
13	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:
14	chr5:12647069..12649041-chr5:12653810..12656965,3	K562	blood:
15	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:
16	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
17	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
18	chr5:12652370..12654399-chr5:12657778..12661483,4	K562	blood:
19	chr5:12579405..12581985-chr5:12616959..12619800,2	K562	blood:
20	chr5:12653349..12655490-chr5:12663314..12666064,2	K562	blood:
21	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:
22	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:
23	chr5:12652370..12654399-chr5:12657778..12661483,4	K562	blood:
24	chr5:12652956..12655094-chr5:12656361..12658712,2	MCF-7	breast:
25	chr2:127182543..127183530-chr5:12689783..12690762,2	MCF-7	breast:
26	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
27	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
28	chr10:102105957..102107814-chr5:12679811..12681638,2	MCF-7	breast:
29	chr5:12637154..12639145-chr5:12647301..12649033,2	K562	blood:
30	chr5:12652956..12655094-chr5:12656361..12658712,2	MCF-7	breast:
31	chr5:12653349..12655490-chr5:12663314..12666064,2	K562	blood:
32	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:

(count:13 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 4699 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:4699 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7704706	chr5:12619289-12619290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542778032	chr5:12619313-12619314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556874324	chr5:12619347-12619348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574886900	chr5:12619351-12619352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542264725	chr5:12619392-12619393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560278194	chr5:12619401-12619402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57413610	chr5:12619435-12619436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560981162	chr5:12619442-12619443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370545385	chr5:12619494-12619495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370140640	chr5:12619519-12619520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540786361	chr5:12619561-12619562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180696517	chr5:12619599-12619600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11523163	chr5:12619652-12619653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79676628	chr5:12619653-12619654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139199657	chr5:12619667-12619668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150224803	chr5:12619693-12619694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186442082	chr5:12619697-12619698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527415228	chr5:12619720-12619721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530068406	chr5:12619753-12619754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551839065	chr5:12619801-12619802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370149308	chr5:12619802-12619803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548298993	chr5:12619812-12619813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560598194	chr5:12619820-12619821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12187363	chr5:12619821-12619822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552664951	chr5:12619884-12619885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571340515	chr5:12619923-12619924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538489632	chr5:12619946-12619947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550460717	chr5:12619949-12619950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112172242	chr5:12619953-12619954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115230319	chr5:12619997-12619998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535805636	chr5:12620067-12620068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563155073	chr5:12620090-12620091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374018211	chr5:12620093-12620094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78317069	chr5:12620112-12620113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77706753	chr5:12620136-12620137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367921701	chr5:12620158-12620159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547191576	chr5:12620159-12620160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533631399	chr5:12620171-12620172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76468312	chr5:12620227-12620228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186901015	chr5:12620252-12620253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191293748	chr5:12620281-12620282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569917497	chr5:12620314-12620315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182512867	chr5:12620392-12620393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138768464	chr5:12620396-12620397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114706382	chr5:12620427-12620428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149512336	chr5:12620435-12620436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542176398	chr5:12620443-12620444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551746230	chr5:12620449-12620450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186791704	chr5:12620501-12620502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542655753	chr5:12620511-12620512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12615600-12627200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:12616200-12622800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:12618400-12621800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:12618800-12621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:12621000-12624000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:12621400-12623800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:12621600-12624600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:12621600-12625400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:12621800-12623600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:12622400-12624600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:12622600-12623200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:12622600-12623600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:12622600-12624000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:12622600-12624200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:12622600-12625000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:12622800-12623200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:12622800-12623200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:12622800-12625200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:12622800-12625200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:12623000-12624000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:12623200-12624200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:12623200-12624800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:12623200-12625000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:12623200-12626400	Enhancers	K562	blood
25	chr5:12623600-12624000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:12623600-12624200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:12623600-12625400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr5:12623800-12625000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:12624000-12624200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr5:12624000-12624200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr5:12624000-12625000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:12624200-12624600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:12624200-12624600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:12624200-12624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:12624200-12624600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:12624200-12625000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:12624600-12624800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:12624600-12625000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:12624600-12625200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr5:12624600-12625600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:12624600-12625600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr5:12624600-12625600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr5:12624800-12625000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:12624800-12629000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr5:12625000-12625200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:12625000-12625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:12625000-12625600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr5:12625000-12625600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:12625000-12626600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr5:12625000-12630200	Active TSS	HUES64 Cell Line	embryonic stem cell

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