Variant report

Variant	esv3452607
Chromosome Location	chr1:189325906-189544517
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:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
2	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
3	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
4	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
5	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
6	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
7	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
8	chr1:189121464..189123287-chr1:189388904..189390413,2	K562	blood:
9	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
10	chr1:189493316..189495330-chr8:119780090..119782266,2	MCF-7	breast:
11	chr1:189119463..189122039-chr1:189394507..189396400,2	K562	blood:
12	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
13	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
14	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
15	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
16	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
17	chr1:188762438..188765055-chr1:189455240..189458166,2	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	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
21	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
22	chr1:188746632..188749210-chr1:189368064..189370522,2	K562	blood:
23	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
24	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
25	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
26	chr1:189398245..189398855-chr3:191237330..191238213,2	MCF-7	breast:
27	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
28	chr1:189390529..189394907-chr1:189395498..189400534,5	K562	blood:
29	chr1:189416774..189418507-chr1:189422911..189425482,2	K562	blood:
30	chr1:189189341..189190044-chr1:189398354..189398974,2	MCF-7	breast:
31	chr1:189409498..189411737-chr1:189422806..189424517,2	MCF-7	breast:
32	chr1:189408828..189411419-chr1:189412082..189414422,2	K562	blood:
33	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
34	chr1:189389640..189390412-chr9:79530846..79531642,2	MCF-7	breast:

(count:2 , 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

No data

Extended variants
information (count: 899 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:899 , 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	rs373062928	chr1:189325912-189325913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115835653	chr1:189326003-189326004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7551739	chr1:189326030-189326031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182441057	chr1:189326063-189326064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575602855	chr1:189326075-189326076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115536611	chr1:189326130-189326131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545171000	chr1:189326133-189326134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563305929	chr1:189326163-189326164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186833443	chr1:189326202-189326203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116838041	chr1:189326216-189326217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190064668	chr1:189326256-189326257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144301293	chr1:189326257-189326258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542703103	chr1:189326265-189326266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6428291	chr1:189326337-189326338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182848259	chr1:189326352-189326353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530486219	chr1:189326429-189326430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369434842	chr1:189326457-189326458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147930570	chr1:189326467-189326468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187458000	chr1:189326487-189326488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141710245	chr1:189326517-189326518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145681407	chr1:189326564-189326565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549917624	chr1:189326568-189326569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567131854	chr1:189326588-189326589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539346564	chr1:189326650-189326651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569098879	chr1:189326651-189326652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192955218	chr1:189326653-189326654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558697858	chr1:189326715-189326716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536560898	chr1:189326764-189326765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537938905	chr1:189326780-189326781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185359705	chr1:189326797-189326798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34873829	chr1:189326807-189326808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9919335	chr1:189326846-189326847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188637052	chr1:189326874-189326875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542371409	chr1:189326876-189326877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533285359	chr1:189326895-189326896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193262673	chr1:189326920-189326921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572773078	chr1:189326948-189326949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544916311	chr1:189326958-189326959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72735826	chr1:189326985-189326986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370267293	chr1:189343843-189343844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115032444	chr1:189343880-189343881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562654679	chr1:189343908-189343909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534581457	chr1:189343946-189343947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185819610	chr1:189343989-189343990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541665766	chr1:189344036-189344037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561969056	chr1:189344053-189344054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527610706	chr1:189344061-189344062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1415144	chr1:189344087-189344088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568244373	chr1:189344127-189344128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147821722	chr1:189344146-189344147	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189325200-189326600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:189325600-189326600	Weak transcription	Stomach Mucosa	stomach
3	chr1:189326600-189327000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:189326600-189327000	Enhancers	Stomach Mucosa	stomach
5	chr1:189343800-189344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:189344000-189344600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:189370200-189370400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:189370400-189370800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:189372200-189373000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:189373000-189373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:189373200-189373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:189373400-189374400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:189374200-189374400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr1:189374200-189374400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:189374200-189375200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:189374400-189374600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:189374400-189374600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:189374400-189375600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:189374400-189375800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:189374600-189374800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:189374600-189374800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:189374600-189374800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:189374600-189375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:189374800-189375000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:189374800-189375400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:189374800-189375400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:189378800-189379600	Enhancers	A549	lung
28	chr1:189464600-189466600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:189465200-189466400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:189466400-189469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:189466600-189469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:189469400-189470400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:189469600-189470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:189474400-189474800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:189481800-189482000	Enhancers	HepG2	liver
36	chr1:189482000-189482400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:189482000-189482400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:189482000-189482600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:189482000-189482800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:189482000-189482800	ZNF genes & repeats	Lung	lung
41	chr1:189482000-189482800	Flanking Active TSS	HepG2	liver
42	chr1:189482200-189482400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:189482200-189482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:189482800-189483200	Enhancers	HepG2	liver
45	chr1:189495200-189495600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:189495600-189499400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:189497000-189497200	Enhancers	Ovary	ovary
48	chr1:189498200-189499400	Weak transcription	Ovary	ovary
49	chr1:189499400-189499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:189499400-189500000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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