Variant report

Variant	nsv599600
Chromosome Location	chr5:119399177-119507243
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
2	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
3	chr5:119490690..119493114-chr7:5464157..5466979,2	MCF-7	breast:
4	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
5	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
6	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
7	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
8	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182095	chromatin interactions
ENSG00000272953	chromatin interactions

Extended variants
information (count: 2874 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2874 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11959439	chr5:119399177-119399178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113076014	chr5:119399198-119399199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200582072	chr5:119399199-119399200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370419596	chr5:119399221-119399222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186011227	chr5:119399235-119399236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541544421	chr5:119399345-119399346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563361642	chr5:119399354-119399355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532083651	chr5:119399358-119399359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145414696	chr5:119399369-119399370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529657382	chr5:119399406-119399407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149130137	chr5:119399408-119399409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373411286	chr5:119399447-119399448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377358095	chr5:119399498-119399499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528080187	chr5:119399578-119399579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559543533	chr5:119407619-119407620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528688861	chr5:119407626-119407627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188246854	chr5:119407662-119407663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562252785	chr5:119407672-119407673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192103544	chr5:119407676-119407677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376413678	chr5:119407698-119407699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550958389	chr5:119407703-119407704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540707518	chr5:119407723-119407724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182781854	chr5:119407757-119407758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187172044	chr5:119407764-119407765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546786814	chr5:119407822-119407823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566646904	chr5:119407927-119407928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369943614	chr5:119407949-119407950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143432204	chr5:119407950-119407951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191587226	chr5:119407968-119407969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150528000	chr5:119407997-119407998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537404245	chr5:119408061-119408062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557751753	chr5:119408072-119408073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577094599	chr5:119408074-119408075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546065931	chr5:119408095-119408096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184142670	chr5:119408101-119408102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2636979	chr5:119408150-119408151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369976259	chr5:119408165-119408166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553288870	chr5:119408179-119408180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573095068	chr5:119408189-119408190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542457815	chr5:119408202-119408203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561995792	chr5:119408214-119408215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139515851	chr5:119408218-119408219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544244450	chr5:119408232-119408233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564491071	chr5:119408273-119408274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533389503	chr5:119408291-119408292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2405356	chr5:119408299-119408300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546901160	chr5:119408390-119408391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560475576	chr5:119408411-119408412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529096057	chr5:119408431-119408432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75742267	chr5:119408472-119408473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119397800-119399400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:119398000-119399600	Enhancers	Fetal Heart	heart
3	chr5:119407600-119408000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:119407800-119408000	Enhancers	Aorta	Aorta
5	chr5:119407800-119408200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:119408000-119410800	Weak transcription	Aorta	Aorta
7	chr5:119408200-119410200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:119409400-119410200	Enhancers	Dnd41	blood
9	chr5:119410200-119411000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:119410800-119411000	Enhancers	Aorta	Aorta
11	chr5:119419800-119420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:119420000-119420400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:119420000-119420400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:119420000-119420600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:119420000-119420800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:119420000-119420800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:119420200-119420600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:119420800-119424200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:119422000-119422400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:119423000-119425200	Enhancers	Dnd41	blood
21	chr5:119423200-119424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:119423200-119428800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:119423600-119424800	Enhancers	Primary T cells from cord blood	blood
24	chr5:119423800-119425000	Enhancers	Primary hematopoietic stem cells	blood
25	chr5:119423800-119425000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:119423800-119425200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:119424000-119424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:119424000-119426800	Enhancers	Fetal Heart	heart
29	chr5:119424200-119424400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr5:119424200-119424600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:119424200-119424600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:119424200-119424800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:119424400-119428600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:119424600-119428600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:119424800-119428600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:119425000-119428600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:119425000-119428800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:119425200-119428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:119425200-119432000	Weak transcription	Dnd41	blood
40	chr5:119426400-119426800	Enhancers	Fetal Brain Male	brain
41	chr5:119426800-119431000	Weak transcription	Fetal Heart	heart
42	chr5:119428600-119429000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:119428600-119429400	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:119428600-119429400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:119428600-119429600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr5:119428800-119429000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:119428800-119429000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr5:119428800-119429200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:119429000-119429200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:119429000-119429400	Active TSS	Monocytes-CD14+_RO01746	blood

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