Variant report

Variant	esv2829892
Chromosome Location	chr1:191558022-191675417
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:31)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
2	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
3	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
4	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
5	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
6	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
7	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
8	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
9	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
10	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
11	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
12	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
13	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
14	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
15	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
16	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
17	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
18	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
19	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
20	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
21	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
22	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
23	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
24	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
25	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
26	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
27	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
28	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
29	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
30	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
31	chr1:191670842..191673088-chr1:191683074..191685461,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-9	chr1:191601401-191601706	NONHSAT008519
2	lnc-RGS18-9	chr1:191586857-191586992	NONHSAT008519
3	lnc-RGS18-9	chr1:191584886-191585028	NONHSAT008519

No data

Extended variants
information (count: 2655 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2655 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1954602	chr1:191558022-191558023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145964461	chr1:191558096-191558097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1954603	chr1:191558101-191558102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs139873714	chr1:191558116-191558117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563258373	chr1:191558121-191558122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12047142	chr1:191558138-191558139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1954604	chr1:191558155-191558156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs143133720	chr1:191558157-191558158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28487882	chr1:191558196-191558197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534637124	chr1:191558203-191558204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564584126	chr1:191558229-191558230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76210746	chr1:191558271-191558272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191216359	chr1:191558314-191558315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183074035	chr1:191558346-191558347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547217323	chr1:191558365-191558366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188561550	chr1:191558367-191558368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576357228	chr1:191558368-191558369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566396939	chr1:191558398-191558399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146666320	chr1:191558433-191558434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376591077	chr1:191558482-191558483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555828703	chr1:191558515-191558516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535191430	chr1:191558537-191558538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572752511	chr1:191558540-191558541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541790739	chr1:191558555-191558556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139389776	chr1:191558560-191558561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578117718	chr1:191558565-191558566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193079419	chr1:191558623-191558624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563263849	chr1:191558658-191558659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546849142	chr1:191558672-191558673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150059320	chr1:191558687-191558688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74424616	chr1:191558691-191558692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75470736	chr1:191558702-191558703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528367470	chr1:191558711-191558712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551270854	chr1:191558803-191558804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371715637	chr1:191558909-191558910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571372551	chr1:191558933-191558934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367947839	chr1:191559009-191559010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185024053	chr1:191559043-191559044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550213625	chr1:191559081-191559082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570033214	chr1:191559139-191559140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535980572	chr1:191559148-191559149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555793543	chr1:191559158-191559159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115611606	chr1:191559175-191559176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551031866	chr1:191559177-191559178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75305216	chr1:191559187-191559188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578104369	chr1:191559266-191559267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369719353	chr1:191559278-191559279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543671601	chr1:191559288-191559289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58679613	chr1:191559292-191559293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573382091	chr1:191559324-191559325	Weak transcription 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
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
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
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191558000-191558200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:191558200-191577600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:191558800-191561600	Enhancers	Dnd41	blood
4	chr1:191560800-191561200	Enhancers	Ovary	ovary
5	chr1:191561200-191561600	Weak transcription	Ovary	ovary
6	chr1:191561600-191562800	Enhancers	Ovary	ovary
7	chr1:191563200-191566000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:191564400-191564600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:191564400-191564800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:191564600-191564800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:191565400-191565800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:191565800-191566000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:191566000-191570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:191570000-191571200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:191570400-191571800	Enhancers	Dnd41	blood
16	chr1:191571800-191576000	Weak transcription	Dnd41	blood
17	chr1:191575800-191576000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:191576000-191576200	Enhancers	Fetal Kidney	kidney
19	chr1:191576000-191576600	Enhancers	Dnd41	blood
20	chr1:191576000-191583200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:191576600-191577200	Weak transcription	Dnd41	blood
22	chr1:191576800-191577000	Enhancers	Fetal Kidney	kidney
23	chr1:191576800-191578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:191577000-191577400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:191577200-191577400	Enhancers	Dnd41	blood
26	chr1:191577200-191577600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:191577200-191577600	Enhancers	NHEK	skin
28	chr1:191577400-191578000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:191577400-191578000	Enhancers	Esophagus	oesophagus
30	chr1:191577600-191577800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:191577600-191578000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:191582600-191583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:191582800-191583200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:191583200-191583400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:191583200-191583400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:191583200-191583400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr1:191583200-191583400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr1:191583200-191583400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr1:191583200-191583400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
40	chr1:191583200-191583400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr1:191583200-191583400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
42	chr1:191583200-191583400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr1:191583200-191583400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:191583200-191583400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:191583200-191583400	Enhancers	Left Ventricle	heart
46	chr1:191583200-191583400	Bivalent Enhancer	Pancreas	Pancrea
47	chr1:191583200-191583400	Enhancers	Right Atrium	heart
48	chr1:191583400-191587000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:191584800-191587400	Weak transcription	Fetal Kidney	kidney
50	chr1:191586800-191588400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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