Variant report

Variant	nsv548503
Chromosome Location	chr1:189272337-189435354
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:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
2	chr1:189241863..189244063-chr1:189280100..189282823,2	K562	blood:
3	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
4	chr1:189275886..189277793-chr1:189279568..189282291,2	K562	blood:
5	chr1:188746632..188749210-chr1:189368064..189370522,2	K562	blood:
6	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
7	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
8	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
9	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
10	chr1:189272043..189274653-chr1:189278886..189280398,2	MCF-7	breast:
11	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
12	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
13	chr1:189272043..189274653-chr1:189278886..189280398,2	MCF-7	breast:
14	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
15	chr1:189275475..189276987-chr1:189302090..189304788,2	K562	blood:
16	chr1:189275475..189276987-chr1:189302090..189304788,2	K562	blood:
17	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
18	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
19	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
20	chr1:189118996..189121109-chr1:189287929..189290792,2	K562	blood:
21	chr1:189121464..189123287-chr1:189388904..189390413,2	K562	blood:
22	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
23	chr1:189119463..189122039-chr1:189394507..189396400,2	K562	blood:
24	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
25	chr1:189389640..189390412-chr9:79530846..79531642,2	MCF-7	breast:
26	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
27	chr1:189279417..189281785-chr1:189284231..189287142,2	MCF-7	breast:
28	chr1:189398245..189398855-chr3:191237330..191238213,2	MCF-7	breast:
29	chr1:189279417..189281785-chr1:189284231..189287142,2	MCF-7	breast:
30	chr1:189275886..189277793-chr1:189279568..189282291,2	K562	blood:
31	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
32	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
33	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-7	chr1:189276860-189277008	NONHSAT008484

No data

Extended variants
information (count: 866 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187287197	chr1:189276894-189276895	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs572917406	chr1:189276914-189276915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371993988	chr1:189276954-189276955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs191854618	chr1:189276956-189276957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs12135892	chr1:189276962-189276963	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182166989	chr1:189280824-189280825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186855004	chr1:189280846-189280847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570376709	chr1:189280856-189280857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191647696	chr1:189280860-189280861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536286501	chr1:189280885-189280886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147279077	chr1:189280887-189280888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566125791	chr1:189280914-189280915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182693322	chr1:189280937-189280938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139808544	chr1:189280944-189280945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570341911	chr1:189280956-189280957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115667109	chr1:189280967-189280968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370245955	chr1:189281001-189281002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116811386	chr1:189281002-189281003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554824662	chr1:189281003-189281004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1415143	chr1:189281023-189281024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12087765	chr1:189281042-189281043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557008050	chr1:189281076-189281077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540794811	chr1:189281124-189281125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564652922	chr1:189281175-189281176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74138281	chr1:189281185-189281186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117868444	chr1:189281200-189281201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577782091	chr1:189281219-189281220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529572356	chr1:189281255-189281256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188336099	chr1:189281262-189281263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73059144	chr1:189281325-189281326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200580309	chr1:189281348-189281349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6670215	chr1:189281384-189281385	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538741270	chr1:189281394-189281395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539219725	chr1:189281404-189281405	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555948658	chr1:189281468-189281469	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569923790	chr1:189281480-189281481	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12135683	chr1:189281489-189281490	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555319971	chr1:189281532-189281533	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3897858	chr1:189281535-189281536	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541040951	chr1:189281563-189281564	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557856895	chr1:189281619-189281620	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577818760	chr1:189281665-189281666	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs543995244	chr1:189281689-189281690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563915021	chr1:189281691-189281692	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529590550	chr1:189281696-189281697	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs951601	chr1:189281719-189281720	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7525296	chr1:189281751-189281752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112389477	chr1:189281767-189281768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs151277575	chr1:189281802-189281803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144083016	chr1:189281828-189281829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189280800-189281600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:189281000-189281200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:189281000-189281200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr1:189281000-189281400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:189281000-189282200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:189281000-189283400	Enhancers	K562	blood
7	chr1:189281200-189281600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:189281200-189282200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:189281400-189281600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:189281400-189281800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:189281400-189282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:189281400-189283000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:189281600-189282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:189281600-189283600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:189281600-189284600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:189281800-189282400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:189281800-189283000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:189281800-189283000	Enhancers	Liver	Liver
19	chr1:189282200-189283600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:189282200-189284800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:189282400-189282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:189282400-189283200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:189282400-189285200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:189282600-189285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:189282600-189285400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:189282600-189285400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:189282800-189283000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:189283000-189283400	Weak transcription	Liver	Liver
29	chr1:189283000-189284200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:189283000-189285000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:189283200-189285000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:189283200-189285200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:189283400-189285400	Enhancers	Liver	Liver
34	chr1:189283600-189284000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:189283600-189285400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:189284000-189285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:189284200-189285400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:189284400-189285000	Enhancers	Brain Germinal Matrix	brain
39	chr1:189284600-189285400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:189284800-189285800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:189285000-189285400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:189285000-189285800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:189285000-189287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:189305000-189305800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:189305200-189305400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:189305400-189305600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:189305400-189306000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:189305600-189306000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:189305800-189306000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:189306000-189306200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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