Variant report

Variant	nsv882491
Chromosome Location	chr5:100767951-100837326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100822374..100824048-chr5:100824712..100826340,2	K562	blood:
2	chr5:100811479..100814241-chr5:100816416..100818516,2	MCF-7	breast:
3	chr5:100811479..100814241-chr5:100816416..100818516,2	MCF-7	breast:
4	chr5:100801149..100803807-chr5:101019076..101021697,2	K562	blood:
5	chr5:100822374..100824048-chr5:100824712..100826340,2	K562	blood:

Extended variants
information (count: 574 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs348402	chr5:100767951-100767952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528019319	chr5:100768053-100768054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7730401	chr5:100768201-100768202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530950202	chr5:100768306-100768307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559332455	chr5:100768321-100768322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528083202	chr5:100768360-100768361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546241063	chr5:100768370-100768371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564680524	chr5:100768414-100768415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs348403	chr5:100768451-100768452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551588495	chr5:100768467-100768468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141405263	chr5:100768499-100768500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150412875	chr5:100768500-100768501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370140842	chr5:100768511-100768512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371892072	chr5:100768556-100768557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73165935	chr5:100768591-100768592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182248195	chr5:100768625-100768626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535068384	chr5:100768650-100768651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372530403	chr5:100768702-100768703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376993123	chr5:100768739-100768740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187210271	chr5:100768748-100768749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138318908	chr5:100768781-100768782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570083055	chr5:100768811-100768812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372808476	chr5:100768812-100768813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78708943	chr5:100768855-100768856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142823395	chr5:100768856-100768857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144794690	chr5:100768911-100768912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369615540	chr5:100768912-100768913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59778308	chr5:100768942-100768943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10050435	chr5:100769038-100769039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575364537	chr5:100769051-100769052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75245177	chr5:100769055-100769056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397740990	chr5:100769065-100769066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370387359	chr5:100769094-100769095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542866758	chr5:100769104-100769105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146095244	chr5:100769146-100769147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572792160	chr5:100769149-100769150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539878461	chr5:100769171-100769172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191637222	chr5:100769174-100769175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549319206	chr5:100769175-100769176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370775081	chr5:100769201-100769202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139271381	chr5:100769242-100769243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563867699	chr5:100769323-100769324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373941211	chr5:100769328-100769329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559512495	chr5:100769388-100769389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377645303	chr5:100769395-100769396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149516134	chr5:100769423-100769424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183198951	chr5:100769424-100769425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571055466	chr5:100769425-100769426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547042863	chr5:100769432-100769433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528307516	chr5:100769501-100769502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100766000-100771200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:100771200-100771400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:100771200-100771800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:100771400-100771800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:100771400-100772000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:100771800-100772000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:100771800-100772400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:100772000-100772400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:100772400-100773800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:100773200-100773600	Enhancers	HSMM	muscle
11	chr5:100773800-100775000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:100785400-100785800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:100785600-100786400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:100785800-100786000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:100785800-100786000	Enhancers	NHDF-Ad	bronchial
16	chr5:100785800-100786200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:100785800-100786400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:100785800-100786400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:100785800-100787000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:100785800-100787200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:100786400-100786600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:100786400-100786800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:100786400-100787600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr5:100786800-100787200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:100790400-100791000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:100800800-100803600	Weak transcription	Small Intestine	intestine
27	chr5:100809200-100809400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:100809200-100809600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:100810000-100810600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:100810000-100810600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:100810000-100810600	Enhancers	HMEC	breast
32	chr5:100817800-100818400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:100818200-100818800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:100818200-100818800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:100818200-100819200	Enhancers	Dnd41	blood
36	chr5:100818400-100819200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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