Variant report

Variant	nsv429969
Chromosome Location	chr1:189337997-189535684
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:2)
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	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
2	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
3	chr1:189389640..189390412-chr9:79530846..79531642,2	MCF-7	breast:
4	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
5	chr1:189119463..189122039-chr1:189394507..189396400,2	K562	blood:
6	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
7	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
8	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
9	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
10	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
11	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
12	chr1:189398245..189398855-chr3:191237330..191238213,2	MCF-7	breast:
13	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
14	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
15	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
16	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
17	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
18	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
19	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
20	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
21	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
22	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
23	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
24	chr1:189493316..189495330-chr8:119780090..119782266,2	MCF-7	breast:
25	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
26	chr1:188762438..188765055-chr1:189455240..189458166,2	MCF-7	breast:
27	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
28	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
29	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
30	chr1:189121464..189123287-chr1:189388904..189390413,2	K562	blood:
31	chr1:188746632..188749210-chr1:189368064..189370522,2	K562	blood:
32	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:

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

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

No data

Extended variants
information (count: 860 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:860 , 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	rs370267293	chr1:189343843-189343844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115032444	chr1:189343880-189343881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562654679	chr1:189343908-189343909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534581457	chr1:189343946-189343947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185819610	chr1:189343989-189343990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541665766	chr1:189344036-189344037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561969056	chr1:189344053-189344054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527610706	chr1:189344061-189344062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1415144	chr1:189344087-189344088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568244373	chr1:189344127-189344128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147821722	chr1:189344146-189344147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532842433	chr1:189344188-189344189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549512077	chr1:189344262-189344263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372328035	chr1:189344268-189344269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529449099	chr1:189344310-189344311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556979877	chr1:189344347-189344348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371846422	chr1:189344385-189344386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141491918	chr1:189344389-189344390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116631773	chr1:189344391-189344392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34652648	chr1:189344393-189344394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535025517	chr1:189344420-189344421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558170429	chr1:189344426-189344427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148875336	chr1:189344484-189344485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189088210	chr1:189344518-189344519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571698732	chr1:189344523-189344524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180777249	chr1:189344529-189344530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557448595	chr1:189344549-189344550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139495544	chr1:189370205-189370206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs191986708	chr1:189370222-189370223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542705652	chr1:189370242-189370243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs5779475	chr1:189370243-189370244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs59338906	chr1:189370251-189370252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553133853	chr1:189370273-189370274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572997264	chr1:189370278-189370279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545059138	chr1:189370312-189370313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562607483	chr1:189370321-189370322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs565053153	chr1:189370361-189370362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114494475	chr1:189370446-189370447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183524230	chr1:189370469-189370470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577736927	chr1:189370495-189370496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563581793	chr1:189370503-189370504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187602112	chr1:189370515-189370516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71635491	chr1:189370519-189370520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148598160	chr1:189370530-189370531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142951574	chr1:189370584-189370585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192532938	chr1:189370616-189370617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7514778	chr1:189370623-189370624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74139478	chr1:189370625-189370626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537621159	chr1:189370639-189370640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79238709	chr1:189370666-189370667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189343800-189344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:189344000-189344600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:189370200-189370400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:189370400-189370800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:189372200-189373000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:189373000-189373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:189373200-189373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:189373400-189374400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:189374200-189374400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr1:189374200-189374400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:189374200-189375200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:189374400-189374600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:189374400-189374600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:189374400-189375600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:189374400-189375800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:189374600-189374800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:189374600-189374800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:189374600-189374800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:189374600-189375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:189374800-189375000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:189374800-189375400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:189374800-189375400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:189378800-189379600	Enhancers	A549	lung
24	chr1:189464600-189466600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:189465200-189466400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:189466400-189469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:189466600-189469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:189469400-189470400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:189469600-189470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:189474400-189474800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:189481800-189482000	Enhancers	HepG2	liver
32	chr1:189482000-189482400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:189482000-189482400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:189482000-189482600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:189482000-189482800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:189482000-189482800	ZNF genes & repeats	Lung	lung
37	chr1:189482000-189482800	Flanking Active TSS	HepG2	liver
38	chr1:189482200-189482400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:189482200-189482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:189482800-189483200	Enhancers	HepG2	liver
41	chr1:189495200-189495600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:189495600-189499400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:189497000-189497200	Enhancers	Ovary	ovary
44	chr1:189498200-189499400	Weak transcription	Ovary	ovary
45	chr1:189499400-189499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:189499400-189500000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:189499400-189500000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:189499400-189500000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:189499400-189500000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:189499400-189500000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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