Variant report

Variant	nsv526905
Chromosome Location	chr5:100966719-101003812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:29120759..29121705-chr5:100998835..100999505,2	MCF-7	breast:
2	chr5:100975709..100978328-chr5:100978773..100981242,2	MCF-7	breast:
3	chr5:100977422..100978164-chr5:101014049..101014730,4	MCF-7	breast:
4	chr5:100975709..100978328-chr5:100978773..100981242,2	MCF-7	breast:
5	chr5:100977296..100978177-chr5:101426469..101427113,2	MCF-7	breast:

Extended variants
information (count: 605 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6861816	chr5:100966719-100966720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77731547	chr5:100966733-100966734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529743827	chr5:100966758-100966759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187323464	chr5:100966761-100966762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560184343	chr5:100966763-100966764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528715047	chr5:100966820-100966821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547152009	chr5:100966848-100966849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189384374	chr5:100966863-100966864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532823156	chr5:100966872-100966873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369397281	chr5:100966878-100966879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73783005	chr5:100966932-100966933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569224804	chr5:100966978-100966979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536645836	chr5:100966980-100966981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548431464	chr5:100967005-100967006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181439112	chr5:100967077-100967078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145184569	chr5:100967120-100967121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558301872	chr5:100967154-100967155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545176305	chr5:100967174-100967175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185874972	chr5:100967196-100967197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397884940	chr5:100967218-100967219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs719904	chr5:100967225-100967226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377153020	chr5:100967226-100967227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114073824	chr5:100967261-100967262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568883047	chr5:100967306-100967307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201924857	chr5:100967324-100967325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554448007	chr5:100967366-100967367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146303791	chr5:100967373-100967374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36114565	chr5:100967385-100967386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3041970	chr5:100967386-100967387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189941932	chr5:100967431-100967432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566376321	chr5:100967463-100967464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539547644	chr5:100967471-100967472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572081329	chr5:100967478-100967479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115037456	chr5:100967486-100967487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565441338	chr5:100967487-100967488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111776791	chr5:100967502-100967503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532855974	chr5:100967515-100967516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79294135	chr5:100967526-100967527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563164819	chr5:100967537-100967538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10075111	chr5:100967563-100967564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548540915	chr5:100967598-100967599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566874566	chr5:100967601-100967602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112899265	chr5:100967605-100967606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369047762	chr5:100967610-100967611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556050791	chr5:100967646-100967647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538624376	chr5:100967651-100967652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs372654289	chr5:100967663-100967664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs568806188	chr5:100967673-100967674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148700337	chr5:100967695-100967696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs142209582	chr5:100967736-100967737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100964800-100967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:100965200-100967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:100967600-100968200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr5:100967600-100969000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:100977800-100978200	Enhancers	A549	lung
6	chr5:100978600-100979000	Enhancers	Fetal Lung	lung
7	chr5:100978600-100979200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:100978600-100979800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:100983200-100983800	Enhancers	Adipose Nuclei	Adipose
10	chr5:100987800-100989200	Enhancers	A549	lung
11	chr5:100988000-100988400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:100989200-100989800	Flanking Active TSS	A549	lung
13	chr5:100989800-100990400	Active TSS	A549	lung
14	chr5:100990400-100993200	Weak transcription	A549	lung
15	chr5:100993200-100994000	Enhancers	A549	lung
16	chr5:100994000-100994400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:100994000-100994400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:100994000-100998000	Weak transcription	A549	lung
19	chr5:100994200-100994800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:100996200-100996400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:100996400-100996800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:100998000-100998600	Enhancers	A549	lung
23	chr5:100998600-100998800	Active TSS	A549	lung
24	chr5:100998600-100999600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:100998800-100999200	Flanking Active TSS	A549	lung
26	chr5:100999200-101000000	Active TSS	A549	lung
27	chr5:101000000-101000400	Enhancers	Gastric	stomach
28	chr5:101000000-101000400	Flanking Active TSS	A549	lung
29	chr5:101000400-101000600	Active TSS	A549	lung
30	chr5:101002800-101003200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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