Variant report

Variant	nsv872671
Chromosome Location	chr1:189238665-189566655
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:55)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
2	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
3	chr1:189248572..189251429-chr1:189254137..189256255,2	MCF-7	breast:
4	chr1:89356053..89357685-chr1:189270012..189271532,2	MCF-7	breast:
5	chr1:189493316..189495330-chr8:119780090..119782266,2	MCF-7	breast:
6	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
7	chr1:189249441..189251122-chr1:189253559..189256297,2	K562	blood:
8	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
9	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
10	chr1:189241863..189244063-chr1:189280100..189282823,2	K562	blood:
11	chr1:189279417..189281785-chr1:189284231..189287142,2	MCF-7	breast:
12	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
13	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
14	chr1:189275475..189276987-chr1:189302090..189304788,2	K562	blood:
15	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
16	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
17	chr1:189248572..189251429-chr1:189254137..189256255,2	MCF-7	breast:
18	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
19	chr1:189275475..189276987-chr1:189302090..189304788,2	K562	blood:
20	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
21	chr1:189275886..189277793-chr1:189279568..189282291,2	K562	blood:
22	chr1:189249441..189251122-chr1:189253559..189256297,2	K562	blood:
23	chr1:189272043..189274653-chr1:189278886..189280398,2	MCF-7	breast:
24	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
25	chr1:189236800..189238519-chr1:189240063..189242886,2	MCF-7	breast:
26	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
27	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
28	chr1:189241863..189244063-chr1:189280100..189282823,2	K562	blood:
29	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
30	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
31	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
32	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
33	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
34	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
35	chr1:189240516..189243229-chr1:189245624..189247512,2	K562	blood:
36	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
37	chr1:188746632..188749210-chr1:189368064..189370522,2	K562	blood:
38	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
39	chr1:189118996..189121109-chr1:189287929..189290792,2	K562	blood:
40	chr1:189121464..189123287-chr1:189388904..189390413,2	K562	blood:
41	chr1:189275886..189277793-chr1:189279568..189282291,2	K562	blood:
42	chr1:188762438..188765055-chr1:189455240..189458166,2	MCF-7	breast:
43	chr1:89355507..89357311-chr1:189270012..189271532,3	K562	blood:
44	chr1:189389640..189390412-chr9:79530846..79531642,2	MCF-7	breast:
45	chr1:189398245..189398855-chr3:191237330..191238213,2	MCF-7	breast:
46	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
47	chr1:189119463..189122039-chr1:189394507..189396400,2	K562	blood:
48	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
49	chr1:189240516..189243229-chr1:189245624..189247512,2	K562	blood:
50	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-18	chr1:189464076-189464220	NONHSAT008485
2	lnc-PLA2G4A-18	chr1:189456912-189457065	NONHSAT008485
3	lnc-PLA2G4A-7	chr1:189276860-189277008	NONHSAT008484

No data

Variant related genes	Relation type
ENSG00000137947	chromatin interactions

Extended variants
information (count: 1694 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1694 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10921627	chr1:189238665-189238666	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550754519	chr1:189238669-189238670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561480559	chr1:189238672-189238673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs542880082	chr1:189238686-189238687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182991672	chr1:189238688-189238689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs10921628	chr1:189238699-189238700	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10921629	chr1:189238722-189238723	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188756203	chr1:189238745-189238746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575838173	chr1:189238757-189238758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538013954	chr1:189238774-189238775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146375015	chr1:189270022-189270023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12752004	chr1:189270029-189270030	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528176343	chr1:189270042-189270043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114464783	chr1:189270060-189270061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111514678	chr1:189270069-189270070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551511762	chr1:189270073-189270074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571391679	chr1:189270139-189270140	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192308146	chr1:189270171-189270172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557320374	chr1:189270217-189270218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373267316	chr1:189270256-189270257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs184866332	chr1:189270262-189270263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546545327	chr1:189270306-189270307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs117429328	chr1:189270332-189270333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149652745	chr1:189270343-189270344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572855459	chr1:189270357-189270358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567978069	chr1:189270428-189270429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs56782465	chr1:189270431-189270432	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1336885	chr1:189270440-189270441	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551273581	chr1:189270450-189270451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs57425219	chr1:189270470-189270471	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544489936	chr1:189270495-189270496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144368544	chr1:189270530-189270531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76970271	chr1:189270539-189270540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530345571	chr1:189270545-189270546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540186476	chr1:189270582-189270583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560293065	chr1:189270602-189270603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1336884	chr1:189270606-189270607	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552436765	chr1:189270625-189270626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540032211	chr1:189270727-189270728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558396631	chr1:189270733-189270734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573244227	chr1:189270757-189270758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534057710	chr1:189270778-189270779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555862149	chr1:189270839-189270840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571398891	chr1:189270841-189270842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527980783	chr1:189270848-189270849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573927984	chr1:189270849-189270850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550817023	chr1:189270888-189270889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567520993	chr1:189270945-189270946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567693372	chr1:189270985-189270986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1336883	chr1:189270986-189270987	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189237200-189238800	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr1:189280800-189281600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:189281000-189281200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:189281000-189281200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:189281000-189281400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:189281000-189282200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:189281000-189283400	Enhancers	K562	blood
8	chr1:189281200-189281600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:189281200-189282200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:189281400-189281600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:189281400-189281800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:189281400-189282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:189281400-189283000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:189281600-189282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:189281600-189283600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:189281600-189284600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:189281800-189282400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:189281800-189283000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:189281800-189283000	Enhancers	Liver	Liver
20	chr1:189282200-189283600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:189282200-189284800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:189282400-189282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:189282400-189283200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:189282400-189285200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:189282600-189285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:189282600-189285400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:189282600-189285400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:189282800-189283000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:189283000-189283400	Weak transcription	Liver	Liver
30	chr1:189283000-189284200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:189283000-189285000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:189283200-189285000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:189283200-189285200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:189283400-189285400	Enhancers	Liver	Liver
35	chr1:189283600-189284000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:189283600-189285400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:189284000-189285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:189284200-189285400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:189284400-189285000	Enhancers	Brain Germinal Matrix	brain
40	chr1:189284600-189285400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:189284800-189285800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:189285000-189285400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:189285000-189285800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:189285000-189287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:189305000-189305800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:189305200-189305400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:189305400-189305600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:189305400-189306000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:189305600-189306000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:189305800-189306000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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