Variant report

Variant	nsv548517
Chromosome Location	chr1:189427759-189589339
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189424671..189426547-chr1:189428199..189429967,2	K562	blood:
2	chr1:188762438..188765055-chr1:189455240..189458166,2	MCF-7	breast:
3	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
4	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
5	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
6	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
7	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
8	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
9	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
10	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
11	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
12	chr1:189475496..189478003-chr1:189479734..189481835,2	K562	blood:
13	chr1:189399166..189401720-chr1:189433273..189435659,2	K562	blood:
14	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
15	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
16	chr1:189456998..189459312-chr1:189462983..189466310,3	MCF-7	breast:
17	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
18	chr1:189493316..189495330-chr8:119780090..119782266,2	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: 1420 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1420 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567336926	chr1:189456992-189456993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs181697455	chr1:189457043-189457044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs11581111	chr1:189457062-189457063	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546957481	chr1:189464089-189464090	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs149483404	chr1:189464160-189464161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539336	chr1:189464163-189464164	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371917090	chr1:189464211-189464212	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201822198	chr1:189464218-189464219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs189592014	chr1:189464602-189464603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114972405	chr1:189464630-189464631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530578901	chr1:189464699-189464700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550685301	chr1:189464722-189464723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181402353	chr1:189464786-189464787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530215847	chr1:189464829-189464830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541505659	chr1:189464913-189464914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567027247	chr1:189464914-189464915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186015965	chr1:189464936-189464937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143363887	chr1:189465011-189465012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568904784	chr1:189465037-189465038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189301292	chr1:189465053-189465054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181960099	chr1:189465082-189465083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573811077	chr1:189465107-189465108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536023953	chr1:189465111-189465112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12126609	chr1:189465113-189465114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573006347	chr1:189465137-189465138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185890832	chr1:189465158-189465159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202107568	chr1:189465186-189465187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564913443	chr1:189465210-189465211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190896290	chr1:189465237-189465238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3220359	chr1:189465301-189465302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200026258	chr1:189465303-189465304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544359485	chr1:189465304-189465305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541448040	chr1:189465311-189465312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201785025	chr1:189465313-189465314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200020921	chr1:189465326-189465327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556548578	chr1:189465334-189465335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560788137	chr1:189465346-189465347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115438023	chr1:189465382-189465383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569527629	chr1:189465392-189465393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540427156	chr1:189465406-189465407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368185451	chr1:189465430-189465431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182651212	chr1:189465431-189465432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532710146	chr1:189465437-189465438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78088178	chr1:189465446-189465447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11802444	chr1:189465452-189465453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531580111	chr1:189465478-189465479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548675934	chr1:189465555-189465556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113266522	chr1:189465576-189465577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190412456	chr1:189465600-189465601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569108467	chr1:189465613-189465614	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189464600-189466600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:189465200-189466400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:189466400-189469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:189466600-189469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:189469400-189470400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:189469600-189470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:189474400-189474800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:189481800-189482000	Enhancers	HepG2	liver
9	chr1:189482000-189482400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:189482000-189482400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:189482000-189482600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:189482000-189482800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:189482000-189482800	ZNF genes & repeats	Lung	lung
14	chr1:189482000-189482800	Flanking Active TSS	HepG2	liver
15	chr1:189482200-189482400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:189482200-189482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:189482800-189483200	Enhancers	HepG2	liver
18	chr1:189495200-189495600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:189495600-189499400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:189497000-189497200	Enhancers	Ovary	ovary
21	chr1:189498200-189499400	Weak transcription	Ovary	ovary
22	chr1:189499400-189499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:189499400-189500000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:189499400-189500000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:189499400-189500000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:189499400-189500000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:189499400-189500000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:189499400-189500000	Enhancers	Ovary	ovary
29	chr1:189499400-189500200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:189499400-189500600	Enhancers	Fetal Lung	lung
31	chr1:189499600-189500000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:189499600-189500000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:189499600-189500000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:189499800-189501000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:189500000-189501200	Weak transcription	Ovary	ovary
36	chr1:189500600-189501400	Weak transcription	Fetal Lung	lung
37	chr1:189501000-189501800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:189501200-189501600	Enhancers	Ovary	ovary
39	chr1:189501400-189501800	Enhancers	Fetal Lung	lung
40	chr1:189501800-189502800	Weak transcription	Fetal Lung	lung
41	chr1:189503000-189503200	Enhancers	Fetal Lung	lung
42	chr1:189519000-189519600	Enhancers	Fetal Brain Male	brain
43	chr1:189523800-189524400	Enhancers	Fetal Lung	lung
44	chr1:189525400-189525600	Enhancers	Esophagus	oesophagus
45	chr1:189525400-189525600	Enhancers	Pancreas	Pancrea
46	chr1:189552200-189553200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:189555200-189555400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:189565200-189566800	Enhancers	HUVEC	blood vessel
49	chr1:189566400-189566800	Active TSS	A549	lung
50	chr1:189574200-189575400	Enhancers	A549	lung

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