Variant report

Variant	nsv872812
Chromosome Location	chr1:191586972-191670376
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
2	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
3	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
4	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
5	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
6	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
7	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
8	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
9	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
10	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
11	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
12	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
13	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
14	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
15	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
16	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
17	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
18	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
19	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
20	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
21	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:

(count:2 , 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

No data

Extended variants
information (count: 1511 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1511 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1572474	chr1:191586972-191586973	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567856431	chr1:191587010-191587011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571113857	chr1:191587027-191587028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533462890	chr1:191587040-191587041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550310548	chr1:191587064-191587065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186836163	chr1:191587065-191587066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535152804	chr1:191587082-191587083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191975355	chr1:191587136-191587137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113937018	chr1:191587257-191587258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565471711	chr1:191587321-191587322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534309947	chr1:191587372-191587373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184037979	chr1:191587384-191587385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79501758	chr1:191587461-191587462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543360120	chr1:191587462-191587463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557084422	chr1:191587495-191587496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374638186	chr1:191587522-191587523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542868112	chr1:191587571-191587572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535197457	chr1:191587670-191587671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201835388	chr1:191587689-191587690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111975102	chr1:191587738-191587739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562146510	chr1:191587743-191587744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552399991	chr1:191587805-191587806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541391865	chr1:191587816-191587817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187746776	chr1:191587836-191587837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570889391	chr1:191587860-191587861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568771820	chr1:191587866-191587867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368261970	chr1:191587883-191587884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564038543	chr1:191587924-191587925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191226893	chr1:191587990-191587991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182639329	chr1:191588035-191588036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549207735	chr1:191588059-191588060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565434419	chr1:191588070-191588071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534414883	chr1:191588071-191588072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187097908	chr1:191588079-191588080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10920979	chr1:191588120-191588121	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147443468	chr1:191588225-191588226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556951646	chr1:191588321-191588322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77004015	chr1:191588340-191588341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191551162	chr1:191588549-191588550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116284000	chr1:191588564-191588565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202038804	chr1:191588586-191588587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397700526	chr1:191588587-191588588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534925096	chr1:191588683-191588684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572534861	chr1:191588776-191588777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541183426	chr1:191588806-191588807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145264050	chr1:191588866-191588867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375308535	chr1:191588906-191588907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577939796	chr1:191588967-191588968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543834589	chr1:191588988-191588989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112647688	chr1:191589060-191589061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191583400-191587000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:191584800-191587400	Weak transcription	Fetal Kidney	kidney
3	chr1:191586800-191588400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:191587400-191588000	Enhancers	Adipose Nuclei	Adipose
5	chr1:191587400-191588000	Enhancers	Fetal Kidney	kidney
6	chr1:191587400-191588000	Enhancers	Fetal Muscle Leg	muscle
7	chr1:191588000-191589800	Weak transcription	Adipose Nuclei	Adipose
8	chr1:191588400-191590600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:191589800-191590800	Enhancers	Adipose Nuclei	Adipose
10	chr1:191590600-191590800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:191597400-191599000	Weak transcription	Pancreas	Pancrea
12	chr1:191599000-191599200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:191599000-191599200	Enhancers	Pancreas	Pancrea
14	chr1:191610000-191610800	Enhancers	Dnd41	blood
15	chr1:191610200-191611000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:191610200-191611400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:191610400-191611000	Active TSS	NH-A	brain
18	chr1:191610600-191611200	Active TSS	A549	lung
19	chr1:191610800-191611000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:191610800-191611200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:191610800-191611400	Active TSS	Osteobl	bone
22	chr1:191611000-191611200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:191611000-191611200	Flanking Active TSS	NH-A	brain
24	chr1:191611000-191611600	Active TSS	Brain Angular Gyrus	brain
25	chr1:191611400-191612800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:191612800-191613000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:191619600-191620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:191619800-191620200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:191619800-191620200	Enhancers	Fetal Muscle Leg	muscle
30	chr1:191619800-191620400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:191620000-191620400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:191620000-191620400	Enhancers	Adipose Nuclei	Adipose
33	chr1:191622400-191622800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:191630000-191630600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:191630200-191630400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:191630200-191630600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:191630400-191631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:191631200-191631400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:191631400-191632200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:191632200-191633200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:191633200-191634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:191634400-191635800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:191635800-191637400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:191637800-191638000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:191638200-191639400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:191638200-191641000	Enhancers	NH-A	brain
47	chr1:191639200-191639400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:191639400-191640600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:191639600-191640600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:191640600-191641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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