Variant report

Variant	nsv882417
Chromosome Location	chr5:98428184-98548315
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:98469162..98471809-chr5:98495145..98496723,2	K562	blood:
2	chr5:98440489..98443167-chr5:98443628..98445845,2	K562	blood:
3	chr5:98461688..98463310-chr5:98465572..98467259,2	K562	blood:
4	chr5:98440206..98440855-chr5:98503610..98504175,2	MCF-7	breast:
5	chr5:98439732..98443167-chr5:98443628..98446985,4	K562	blood:
6	chr5:98439732..98443167-chr5:98443628..98446985,4	K562	blood:
7	chr5:98398974..98401238-chr5:98428191..98430684,2	MCF-7	breast:
8	chr16:12069041..12070712-chr5:98447812..98450049,2	MCF-7	breast:
9	chr5:98423960..98426113-chr5:98429583..98431463,3	K562	blood:
10	chr5:98440489..98443167-chr5:98443628..98445845,2	K562	blood:
11	chr5:98429467..98432649-chr5:98432895..98434455,3	K562	blood:
12	chr5:98429467..98432649-chr5:98432895..98434455,3	K562	blood:
13	chr5:98264688..98266479-chr5:98468438..98470812,2	K562	blood:
14	chr5:98461688..98463310-chr5:98465572..98467259,2	K562	blood:
15	chr5:98439759..98440660-chr5:101559209..101559794,3	K562	blood:
16	chr5:98440206..98440855-chr5:98503610..98504175,2	MCF-7	breast:
17	chr5:98469162..98471809-chr5:98495145..98496723,2	K562	blood:
18	chr5:98440068..98440810-chr5:99647288..99647935,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234719	chromatin interactions
ENSG00000248489	chromatin interactions
ENSG00000048471	chromatin interactions

Extended variants
information (count: 1216 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1216 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7716372	chr5:98428184-98428185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577276119	chr5:98428190-98428191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75726331	chr5:98429631-98429632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573735646	chr5:98429638-98429639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185471542	chr5:98429675-98429676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552999845	chr5:98429706-98429707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376872757	chr5:98429833-98429834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577687551	chr5:98429848-98429849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112352243	chr5:98429861-98429862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545000785	chr5:98429894-98429895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563312864	chr5:98429909-98429910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147135588	chr5:98429928-98429929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10477871	chr5:98430000-98430001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189592574	chr5:98430094-98430095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35593011	chr5:98430097-98430098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376217973	chr5:98430098-98430099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561432317	chr5:98430099-98430100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562567758	chr5:98430138-98430139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546900018	chr5:98430171-98430172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57031864	chr5:98430253-98430254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532505806	chr5:98430269-98430270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180915862	chr5:98430291-98430292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140324101	chr5:98430326-98430327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202103250	chr5:98430346-98430347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76882141	chr5:98430374-98430375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142098135	chr5:98430386-98430387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185968844	chr5:98430391-98430392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371724061	chr5:98430432-98430433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534790642	chr5:98430443-98430444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545899037	chr5:98430444-98430445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190251821	chr5:98430466-98430467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151172696	chr5:98430472-98430473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140529438	chr5:98430500-98430501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557093690	chr5:98430505-98430506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181111786	chr5:98430528-98430529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11955910	chr5:98430531-98430532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561598498	chr5:98430533-98430534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528809057	chr5:98430540-98430541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576326025	chr5:98430544-98430545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542009379	chr5:98430567-98430568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186245699	chr5:98430620-98430621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372622719	chr5:98430621-98430622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550614278	chr5:98430647-98430648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190614240	chr5:98430688-98430689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557722475	chr5:98430757-98430758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561970240	chr5:98430819-98430820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11952159	chr5:98430943-98430944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548317145	chr5:98430978-98430979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7724878	chr5:98431058-98431059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34686211	chr5:98431077-98431078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98427800-98428200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:98427800-98428200	Enhancers	HSMMtube	muscle
3	chr5:98429600-98429800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:98429800-98430000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:98430000-98434600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:98434600-98435400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:98434600-98437400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:98437400-98438200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:98438200-98438600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:98438600-98441000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:98440600-98440800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:98440600-98441200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:98440600-98441400	Enhancers	HUVEC	blood vessel
14	chr5:98440600-98441800	Enhancers	Fetal Lung	lung
15	chr5:98441000-98441400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:98441400-98441600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:98441600-98441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:98441800-98442000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:98443000-98443400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:98443000-98443400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:98447600-98447800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:98455800-98456800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:98456000-98456800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:98465200-98465600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:98465200-98465800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:98465200-98466200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:98465200-98466600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:98465400-98466000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:98465400-98466200	Enhancers	Adipose Nuclei	Adipose
30	chr5:98465600-98466000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:98465600-98466000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:98465600-98466000	Enhancers	Fetal Kidney	kidney
33	chr5:98465600-98466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:98465600-98466200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:98465600-98466600	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:98465800-98466200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:98466200-98466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:98502400-98503200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:98502600-98502800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:98502600-98506600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:98502800-98503200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:98502800-98504000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:98503200-98503600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:98503200-98504400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:98503600-98504200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:98503800-98505800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:98504000-98505600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:98504200-98505200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:98504400-98505200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:98504600-98505400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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