Variant report

Variant	nsv969191
Chromosome Location	chr5:101022775-101028147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100950934..100952627-chr5:101023886..101026706,2	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79000147	chr5:101022784-101022785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536619216	chr5:101022797-101022798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569456733	chr5:101022805-101022806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115978233	chr5:101022946-101022947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190056419	chr5:101022992-101022993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368978518	chr5:101022994-101022995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568528509	chr5:101023015-101023016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140048791	chr5:101023024-101023025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554460939	chr5:101023035-101023036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56412935	chr5:101023045-101023046	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181344033	chr5:101023088-101023089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184985768	chr5:101023110-101023111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200588113	chr5:101023156-101023157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576515651	chr5:101023157-101023158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543516968	chr5:101023164-101023165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191156262	chr5:101023241-101023242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573706002	chr5:101023250-101023251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540934486	chr5:101023279-101023280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576560203	chr5:101023432-101023433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182638638	chr5:101023433-101023434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75913674	chr5:101023463-101023464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76546066	chr5:101023474-101023475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563125016	chr5:101023514-101023515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530648791	chr5:101023556-101023557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548777766	chr5:101023579-101023580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112145438	chr5:101023581-101023582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529427644	chr5:101023620-101023621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548001937	chr5:101023621-101023622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566423830	chr5:101023625-101023626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559155071	chr5:101023649-101023650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67687061	chr5:101023672-101023673	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147732811	chr5:101023679-101023680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1479063	chr5:101023689-101023690	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537555376	chr5:101023701-101023702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555537455	chr5:101023703-101023704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188952249	chr5:101023760-101023761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191982878	chr5:101023796-101023797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182896132	chr5:101023804-101023805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552724846	chr5:101023806-101023807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569370040	chr5:101023845-101023846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577548257	chr5:101023896-101023897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187656381	chr5:101024098-101024099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544624590	chr5:101024130-101024131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563320622	chr5:101024235-101024236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72294156	chr5:101024304-101024305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369659368	chr5:101024338-101024339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191774468	chr5:101024396-101024397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527389817	chr5:101024397-101024398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575085811	chr5:101024486-101024487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184279919	chr5:101024512-101024513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101014400-101025200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:101014400-101037600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:101016800-101022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:101021200-101023600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:101021200-101023800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:101021800-101023200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:101021800-101023800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:101022000-101023200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:101022200-101022800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:101022200-101023400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:101022600-101023400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:101022600-101023600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:101022600-101024000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:101022600-101027600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:101022800-101023400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:101022800-101023600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:101023200-101024400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:101023200-101027000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:101023600-101024600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:101023600-101024800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:101023600-101024800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:101023800-101024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:101023800-101024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:101024200-101026600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:101024400-101025200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:101024600-101026400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:101024800-101025000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:101024800-101025400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:101025000-101026200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:101025200-101025400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:101025200-101026200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:101026600-101027400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:101027000-101027200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:101027400-101029400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:101027600-101028200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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