Variant report

Variant	nsv1027940
Chromosome Location	chr5:113091513-113185361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:113017956..113018778-chr5:113092950..113093675,3	MCF-7	breast:
2	chr5:113148118..113150483-chr5:113151367..113153040,2	K562	blood:
3	chr5:113148118..113150483-chr5:113151367..113153040,2	K562	blood:
4	chr5:113014588..113015273-chr5:113139880..113140620,2	MCF-7	breast:
5	chr5:113017877..113018838-chr5:113139684..113140688,6	MCF-7	breast:
6	chr5:113017961..113018794-chr5:113092959..113093884,2	MCF-7	breast:

Extended variants
information (count: 1887 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1887 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190598935	chr5:113091521-113091522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535550727	chr5:113091573-113091574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557037981	chr5:113091578-113091579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148814308	chr5:113091624-113091625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529479522	chr5:113091646-113091647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539642324	chr5:113091652-113091653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369769822	chr5:113091683-113091684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573079074	chr5:113091695-113091696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540201078	chr5:113091701-113091702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114776877	chr5:113091723-113091724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182891326	chr5:113091728-113091729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187743803	chr5:113091753-113091754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372617591	chr5:113091762-113091763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369103711	chr5:113091804-113091805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1482373	chr5:113091867-113091868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539747662	chr5:113091944-113091945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192904619	chr5:113091970-113091971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11352093	chr5:113091975-113091976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552713896	chr5:113091981-113091982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11241233	chr5:113091994-113091995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536932121	chr5:113092020-113092021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572787385	chr5:113092029-113092030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528771100	chr5:113092061-113092062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546935394	chr5:113092065-113092066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568065596	chr5:113092078-113092079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535465694	chr5:113092087-113092088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550632678	chr5:113092088-113092089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377109850	chr5:113092111-113092112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143515122	chr5:113092157-113092158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137988947	chr5:113092176-113092177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533752272	chr5:113092187-113092188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556742076	chr5:113094800-113094801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578178575	chr5:113094850-113094851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373246425	chr5:113094886-113094887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367889439	chr5:113094913-113094914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567224726	chr5:113094915-113094916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560284909	chr5:113094959-113094960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188839227	chr5:113094969-113094970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144253745	chr5:113095002-113095003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547453419	chr5:113095007-113095008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181563948	chr5:113095016-113095017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186099084	chr5:113095034-113095035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34358509	chr5:113095045-113095046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1817487	chr5:113095090-113095091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547671875	chr5:113095096-113095097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565294812	chr5:113095108-113095109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535859367	chr5:113095117-113095118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578091286	chr5:113095126-113095127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151321567	chr5:113095145-113095146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112552706	chr5:113095154-113095155	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113090800-113092200	Enhancers	Fetal Lung	lung
2	chr5:113094800-113096000	Enhancers	GM12878-XiMat	blood
3	chr5:113095800-113096400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:113095800-113096600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:113095800-113097200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:113096000-113096400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:113096000-113096400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:113096000-113096800	Weak transcription	GM12878-XiMat	blood
9	chr5:113096200-113096800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:113096800-113097800	Enhancers	GM12878-XiMat	blood
11	chr5:113097200-113097600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:113097200-113097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:113097800-113098000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:113099800-113111800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:113102200-113102600	ZNF genes & repeats	Liver	Liver
16	chr5:113106200-113106600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:113106200-113106800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:113106200-113107000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:113106200-113107400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:113106400-113106600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:113106400-113106600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:113106400-113107600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:113106600-113106800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:113106800-113111400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:113106800-113111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:113107000-113111600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:113107200-113107400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:113107200-113107600	Enhancers	Ovary	ovary
29	chr5:113107400-113109600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:113109600-113110000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:113110000-113111400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:113111200-113112600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:113111400-113111800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:113111400-113111800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:113111400-113112200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:113111400-113112800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:113111400-113112800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:113111600-113111800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:113111600-113111800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:113111600-113112600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:113111600-113112800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr5:113111600-113113200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:113111800-113112200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:113111800-113112600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:113111800-113112600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr5:113111800-113112600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:113111800-113112800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr5:113112000-113112600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr5:113112200-113112600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr5:113112200-113112800	Enhancers	Brain Hippocampus Middle	brain

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