Variant report

Variant	nsv829948
Chromosome Location	chr1:58803681-58971380
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:39)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:58961771..58963542-chr1:58968786..58970688,2	K562	blood:
2	chr1:58919238..58922584-chr1:58922998..58926131,3	K562	blood:
3	chr1:58963913..58966906-chr1:58967410..58971434,3	K562	blood:
4	chr1:58882887..58885936-chr1:58886276..58889578,3	K562	blood:
5	chr1:58928999..58931330-chr1:58934194..58936691,3	K562	blood:
6	chr1:58937066..58939253-chr1:58941225..58943551,3	K562	blood:
7	chr1:58963913..58966906-chr1:58967410..58971434,3	K562	blood:
8	chr1:58860505..58862882-chr1:58864081..58866876,2	K562	blood:
9	chr1:58920454..58922828-chr1:58933133..58935676,2	K562	blood:
10	chr1:58876313..58878755-chr1:58894303..58896488,2	K562	blood:
11	chr1:58949687..58952504-chr1:58961648..58964337,2	K562	blood:
12	chr1:58902505..58905218-chr1:58907792..58909516,2	K562	blood:
13	chr1:58949687..58952504-chr1:58961648..58964337,2	K562	blood:
14	chr1:58937066..58939253-chr1:58941225..58943551,3	K562	blood:
15	chr1:58818533..58820459-chr1:58820821..58822509,2	K562	blood:
16	chr1:58905793..58907441-chr1:58909424..58911433,2	K562	blood:
17	chr1:58826471..58829368-chr1:58831041..58834021,2	K562	blood:
18	chr1:58928999..58931330-chr1:58934194..58936691,3	K562	blood:
19	chr1:58865557..58869019-chr1:58871104..58874582,3	K562	blood:
20	chr1:58946986..58949777-chr1:58949804..58952885,4	K562	blood:
21	chr1:58920454..58922828-chr1:58933133..58935676,2	K562	blood:
22	chr1:58826471..58829368-chr1:58831041..58834021,2	K562	blood:
23	chr1:58905793..58907441-chr1:58909424..58911433,2	K562	blood:
24	chr1:58815555..58817828-chr1:58819900..58822512,2	K562	blood:
25	chr1:58961771..58963542-chr1:58968786..58970688,2	K562	blood:
26	chr1:58882887..58885936-chr1:58886276..58889578,3	K562	blood:
27	chr1:58876313..58878755-chr1:58894303..58896488,2	K562	blood:
28	chr1:58907599..58909136-chr1:59162413..59164424,2	K562	blood:
29	chr1:58860505..58862882-chr1:58864081..58866876,2	K562	blood:
30	chr1:58815555..58817828-chr1:58819900..58822512,2	K562	blood:
31	chr1:58937284..58939253-chr1:58941358..58943551,2	K562	blood:
32	chr1:58818533..58820459-chr1:58820821..58822509,2	K562	blood:
33	chr1:58937284..58939253-chr1:58941358..58943551,2	K562	blood:
34	chr1:58799608..58801830-chr1:58803246..58806854,3	K562	blood:
35	chr1:58902505..58905218-chr1:58907792..58909516,2	K562	blood:
36	chr1:58919238..58922584-chr1:58922998..58926131,3	K562	blood:
37	chr1:58898247..58900183-chr1:59010844..59013063,2	K562	blood:
38	chr1:58865557..58869019-chr1:58871104..58874582,3	K562	blood:
39	chr1:58946986..58949777-chr1:58949804..58952885,4	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TACSTD2-4	chr1:58928224-58928466	NONHSAT003504
2	lnc-TACSTD2-3	chr1:58933599-58934677	NONHSAT003505
3	lnc-TACSTD2-5	chr1:58893000-58897248	ucscGeneNc_uc001cza_2

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	OMA1	hsa-miR-125a-5p	chr1:58946527-58946551
2	OMA1	hsa-miR-10a-5p	chr1:58946526-58946548

Variant related genes	Relation type
ENSG00000173406	chromatin interactions
ENSG00000162600	chromatin interactions

Extended variants
information (count: 6413 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:6413 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536406218	chr1:58803708-58803709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138140603	chr1:58803712-58803713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552387921	chr1:58803794-58803795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533208031	chr1:58803802-58803803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569076269	chr1:58803812-58803813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538000070	chr1:58803847-58803848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71642160	chr1:58803962-58803963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142621181	chr1:58803989-58803990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548543288	chr1:58804067-58804068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560259533	chr1:58804086-58804087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181424833	chr1:58804110-58804111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533828392	chr1:58804157-58804158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553770301	chr1:58804203-58804204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527504790	chr1:58804263-58804264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72912379	chr1:58804292-58804293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541700320	chr1:58804298-58804299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548792541	chr1:58804300-58804301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555943209	chr1:58804328-58804329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72912380	chr1:58804396-58804397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544368984	chr1:58804447-58804448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554723558	chr1:58804480-58804481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111430168	chr1:58804533-58804534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372648060	chr1:58804549-58804550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540563943	chr1:58804641-58804642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186677574	chr1:58804643-58804644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532356295	chr1:58804647-58804648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144604984	chr1:58804654-58804655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564374276	chr1:58804696-58804697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531558734	chr1:58804742-58804743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548438319	chr1:58804752-58804753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12725541	chr1:58804786-58804787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114066837	chr1:58804793-58804794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138413143	chr1:58804817-58804818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572729234	chr1:58804825-58804826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539026690	chr1:58804986-58804987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149241726	chr1:58805024-58805025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536828720	chr1:58805062-58805063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12562100	chr1:58805106-58805107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535164975	chr1:58805134-58805135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370844345	chr1:58805245-58805246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554786801	chr1:58805324-58805325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144511168	chr1:58805328-58805329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543938455	chr1:58805343-58805344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540925160	chr1:58805370-58805371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17442487	chr1:58805438-58805439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577184831	chr1:58805443-58805444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17495428	chr1:58805487-58805488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545260360	chr1:58805537-58805538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117013653	chr1:58805539-58805540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531881716	chr1:58805652-58805653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1380 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58802600-58810800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:58803000-58804000	Enhancers	Primary T cells from cord blood	blood
3	chr1:58803400-58804200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:58803800-58804000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:58804000-58810200	Weak transcription	Primary T cells from cord blood	blood
6	chr1:58804000-58810800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:58805200-58807200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:58805400-58806800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:58805600-58806800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:58805600-58807000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:58805600-58807000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:58805800-58806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:58806000-58806400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:58806000-58806400	Enhancers	Fetal Lung	lung
15	chr1:58806400-58810600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:58806400-58810800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:58807000-58810400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:58807200-58810400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:58810400-58811400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:58810400-58811800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:58810400-58812400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:58810600-58811200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:58810600-58811400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:58810600-58812600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:58810800-58811400	Enhancers	Liver	Liver
26	chr1:58810800-58811600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:58810800-58811800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:58810800-58811800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:58810800-58811800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:58810800-58812000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:58810800-58812200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:58810800-58812200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:58810800-58812400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:58810800-58812600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:58811000-58812200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:58811000-58812200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:58811200-58811400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:58811200-58812200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:58811400-58811600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:58811400-58812200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:58811400-58812200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:58811600-58811800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:58811800-58812200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:58811800-58823200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:58812000-58813200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:58812200-58812600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:58812200-58813200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:58812400-58813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:58812400-58813800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:58812600-58814000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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