Variant report

Variant	nsv548589
Chromosome Location	chr1:191546574-191636974
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:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
2	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
3	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
4	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
5	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
6	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
7	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
8	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
9	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
10	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
11	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
12	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
13	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
14	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
15	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
16	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
17	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
18	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
19	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
20	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
21	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
22	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:

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

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

No data

Extended variants
information (count: 2093 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2093 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12751302	chr1:191546574-191546575	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368407337	chr1:191546578-191546579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72727106	chr1:191546608-191546609	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111676203	chr1:191546621-191546622	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77537166	chr1:191546627-191546628	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577532216	chr1:191546628-191546629	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138956152	chr1:191546645-191546646	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116188573	chr1:191546764-191546765	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545522655	chr1:191546770-191546771	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531333433	chr1:191546819-191546820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541912594	chr1:191546834-191546835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200509964	chr1:191546837-191546838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562222953	chr1:191546901-191546902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564918347	chr1:191546985-191546986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559593225	chr1:191547004-191547005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572305782	chr1:191547102-191547103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs543485995	chr1:191547118-191547119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577907596	chr1:191547119-191547120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374997872	chr1:191547153-191547154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533650064	chr1:191547205-191547206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs544970590	chr1:191547224-191547225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs115271900	chr1:191547234-191547235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563868155	chr1:191547239-191547240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181474504	chr1:191547243-191547244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548763212	chr1:191547254-191547255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142193543	chr1:191547332-191547333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144720935	chr1:191547420-191547421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs148122451	chr1:191547470-191547471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs564982384	chr1:191547477-191547478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185767725	chr1:191547481-191547482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs190962078	chr1:191547496-191547497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532289204	chr1:191547504-191547505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567085184	chr1:191547554-191547555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs536453308	chr1:191547560-191547561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181758995	chr1:191547565-191547566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572516095	chr1:191547573-191547574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186089419	chr1:191547711-191547712	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560356846	chr1:191547726-191547727	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558160153	chr1:191547731-191547732	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs883140	chr1:191547747-191547748	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549135479	chr1:191547780-191547781	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141821540	chr1:191547788-191547789	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190763970	chr1:191547800-191547801	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529461469	chr1:191547802-191547803	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183420505	chr1:191547816-191547817	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559731446	chr1:191547868-191547869	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs883141	chr1:191547875-191547876	ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551235255	chr1:191547976-191547977	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115331051	chr1:191547984-191547985	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs867426	chr1:191547994-191547995	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance

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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191545400-191546600	Weak transcription	K562	blood
2	chr1:191546400-191550400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:191546600-191546800	Enhancers	K562	blood
4	chr1:191547600-191547800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:191547800-191548000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:191548000-191548400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:191548000-191548400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:191548400-191548600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:191550400-191550800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:191550800-191551200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:191551200-191552400	Enhancers	K562	blood
12	chr1:191551200-191552600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:191552400-191552800	Weak transcription	K562	blood
14	chr1:191552600-191556000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:191552800-191553000	Enhancers	K562	blood
16	chr1:191553000-191554200	Weak transcription	K562	blood
17	chr1:191554200-191555200	Enhancers	K562	blood
18	chr1:191558000-191558200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:191558200-191577600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:191558800-191561600	Enhancers	Dnd41	blood
21	chr1:191560800-191561200	Enhancers	Ovary	ovary
22	chr1:191561200-191561600	Weak transcription	Ovary	ovary
23	chr1:191561600-191562800	Enhancers	Ovary	ovary
24	chr1:191563200-191566000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:191564400-191564600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:191564400-191564800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:191564600-191564800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:191565400-191565800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:191565800-191566000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:191566000-191570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:191570000-191571200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:191570400-191571800	Enhancers	Dnd41	blood
33	chr1:191571800-191576000	Weak transcription	Dnd41	blood
34	chr1:191575800-191576000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:191576000-191576200	Enhancers	Fetal Kidney	kidney
36	chr1:191576000-191576600	Enhancers	Dnd41	blood
37	chr1:191576000-191583200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:191576600-191577200	Weak transcription	Dnd41	blood
39	chr1:191576800-191577000	Enhancers	Fetal Kidney	kidney
40	chr1:191576800-191578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:191577000-191577400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:191577200-191577400	Enhancers	Dnd41	blood
43	chr1:191577200-191577600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:191577200-191577600	Enhancers	NHEK	skin
45	chr1:191577400-191578000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:191577400-191578000	Enhancers	Esophagus	oesophagus
47	chr1:191577600-191577800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:191577600-191578000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:191582600-191583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:191582800-191583200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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