Variant report

Variant	nsv528177
Chromosome Location	chr5:117434840-117496422
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:
2	chr5:117357636..117358157-chr5:117474927..117475609,2	MCF-7	breast:
3	chr19:45004428..45006019-chr5:117490682..117492182,2	MCF-7	breast:
4	chr5:116822600..116823429-chr5:117474971..117475497,2	MCF-7	breast:
5	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:
6	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:
7	chr5:117345305..117346362-chr5:117474865..117475949,14	MCF-7	breast:
8	chr5:117345254..117346267-chr5:117474942..117475858,13	MCF-7	breast:
9	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:
10	chr5:117345305..117346227-chr5:117474940..117475818,10	MCF-7	breast:
11	chr5:117347018..117349596-chr5:117474146..117475861,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167384	chromatin interactions

Extended variants
information (count: 466 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67929143	chr5:117435809-117435810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558330520	chr5:117435821-117435822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116804219	chr5:117435898-117435899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112151232	chr5:117435906-117435907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560273280	chr5:117435941-117435942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574009251	chr5:117435992-117435993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373767462	chr5:117441018-117441019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571256556	chr5:117441034-117441035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533629789	chr5:117441057-117441058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372592463	chr5:117441080-117441081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553880614	chr5:117441145-117441146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573746668	chr5:117441168-117441169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567672633	chr5:117441183-117441184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114478417	chr5:117441185-117441186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555960772	chr5:117441245-117441246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80091304	chr5:117441260-117441261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs66865244	chr5:117441319-117441320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544936755	chr5:117441322-117441323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557842409	chr5:117441340-117441341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs67665702	chr5:117441365-117441366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376281600	chr5:117441372-117441373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540360427	chr5:117441400-117441401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181945392	chr5:117441407-117441408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57994564	chr5:117441423-117441424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568599678	chr5:117441436-117441437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185722252	chr5:117441448-117441449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532029713	chr5:117441486-117441487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537679840	chr5:117441488-117441489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191498647	chr5:117441492-117441493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183852647	chr5:117441513-117441514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566816521	chr5:117441524-117441525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143474317	chr5:117441536-117441537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547088206	chr5:117441602-117441603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186318908	chr5:117441610-117441611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76751400	chr5:117441612-117441613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4632836	chr5:117441642-117441643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146744096	chr5:117441658-117441659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148456398	chr5:117441665-117441666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142600949	chr5:117441674-117441675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114169232	chr5:117441728-117441729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372552721	chr5:117441744-117441745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538567371	chr5:117441848-117441849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553405654	chr5:117441862-117441863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558357866	chr5:117441971-117441972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377204522	chr5:117441972-117441973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201390889	chr5:117441974-117441975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34595769	chr5:117441987-117441988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540283544	chr5:117442027-117442028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553590510	chr5:117442044-117442045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543179892	chr5:117442061-117442062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117435800-117436000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:117441000-117441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:117441600-117442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:117441800-117446400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:117442000-117443600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:117443600-117445200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:117447800-117448000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr5:117449000-117449200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:117449200-117449400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:117451400-117451800	Enhancers	HMEC	breast
11	chr5:117451400-117452000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:117458000-117458400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:117458000-117458400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:117461600-117462400	Enhancers	HMEC	breast
15	chr5:117480600-117480800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:117491200-117492400	Enhancers	Fetal Lung	lung
17	chr5:117494400-117494800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:117494400-117494800	Enhancers	HUES48 Cell Line	embryonic stem cell

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