Variant report

Variant	nsv1016004
Chromosome Location	chr5:117429481-117498064
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	chr5:117345305..117346362-chr5:117474865..117475949,14	MCF-7	breast:
2	chr5:117357636..117358157-chr5:117474927..117475609,2	MCF-7	breast:
3	chr5:117345254..117346267-chr5:117474942..117475858,13	MCF-7	breast:
4	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:
5	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:
6	chr5:116822600..116823429-chr5:117474971..117475497,2	MCF-7	breast:
7	chr19:45004428..45006019-chr5:117490682..117492182,2	MCF-7	breast:
8	chr5:117345305..117346227-chr5:117474940..117475818,10	MCF-7	breast:
9	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:
10	chr5:117347018..117349596-chr5:117474146..117475861,2	MCF-7	breast:
11	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167384	chromatin interactions

Extended variants
information (count: 568 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:568 , 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	rs66499335	chr5:117430200-117430201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145640204	chr5:117430208-117430209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116285799	chr5:117430285-117430286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567824521	chr5:117430286-117430287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536956284	chr5:117430306-117430307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141392879	chr5:117430346-117430347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375471794	chr5:117430402-117430403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549485907	chr5:117430442-117430443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569651667	chr5:117430481-117430482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563098717	chr5:117430505-117430506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7724889	chr5:117430550-117430551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533330604	chr5:117430577-117430578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558256634	chr5:117430597-117430598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148898277	chr5:117430614-117430615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374321055	chr5:117430631-117430632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577209860	chr5:117430648-117430649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554349832	chr5:117430674-117430675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574596676	chr5:117430681-117430682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186785406	chr5:117430697-117430698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116405426	chr5:117430704-117430705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576417970	chr5:117430713-117430714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191233528	chr5:117430738-117430739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138018252	chr5:117430761-117430762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527797193	chr5:117430781-117430782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181333776	chr5:117430811-117430812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185844123	chr5:117430826-117430827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189770333	chr5:117430907-117430908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551936754	chr5:117430918-117430919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142078662	chr5:117431040-117431041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114489035	chr5:117431050-117431051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569531751	chr5:117431092-117431093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11742593	chr5:117431094-117431095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182493574	chr5:117431120-117431121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565394687	chr5:117431126-117431127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534413209	chr5:117431175-117431176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80214466	chr5:117431183-117431184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549005800	chr5:117431214-117431215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574589342	chr5:117431247-117431248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536930986	chr5:117431263-117431264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189019308	chr5:117431309-117431310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555314765	chr5:117431323-117431324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545380773	chr5:117431328-117431329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565283575	chr5:117431398-117431399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572545862	chr5:117431426-117431427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541555208	chr5:117431443-117431444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376833654	chr5:117431473-117431474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191996266	chr5:117431487-117431488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530349440	chr5:117431536-117431537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543753526	chr5:117431584-117431585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80121773	chr5:117431589-117431590	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Ovarian clear cell carcinoma	21343371	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117430200-117431800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:117430400-117431400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:117430400-117431800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:117430800-117431200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:117433200-117433800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:117433600-117434200	Enhancers	Fetal Brain Male	brain
7	chr5:117435800-117436000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:117441000-117441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:117441600-117442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:117441800-117446400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:117442000-117443600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:117443600-117445200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:117447800-117448000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr5:117449000-117449200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:117449200-117449400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:117451400-117451800	Enhancers	HMEC	breast
17	chr5:117451400-117452000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:117458000-117458400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:117458000-117458400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:117461600-117462400	Enhancers	HMEC	breast
21	chr5:117480600-117480800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:117491200-117492400	Enhancers	Fetal Lung	lung
23	chr5:117494400-117494800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:117494400-117494800	Enhancers	HUES48 Cell Line	embryonic stem cell

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