Variant report

Variant	nsv482367
Chromosome Location	chr5:98440337-98606909
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:98439732..98443167-chr5:98443628..98446985,4	K562	blood:
2	chr5:98469162..98471809-chr5:98495145..98496723,2	K562	blood:
3	chr5:98440206..98440855-chr5:98503610..98504175,2	MCF-7	breast:
4	chr5:98440489..98443167-chr5:98443628..98445845,2	K562	blood:
5	chr5:98440206..98440855-chr5:98503610..98504175,2	MCF-7	breast:
6	chr5:98439732..98443167-chr5:98443628..98446985,4	K562	blood:
7	chr5:98439759..98440660-chr5:101559209..101559794,3	K562	blood:
8	chr5:98469162..98471809-chr5:98495145..98496723,2	K562	blood:
9	chr5:98461688..98463310-chr5:98465572..98467259,2	K562	blood:
10	chr5:98440489..98443167-chr5:98443628..98445845,2	K562	blood:
11	chr5:98440068..98440810-chr5:99647288..99647935,2	MCF-7	breast:
12	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
13	chr16:12069041..12070712-chr5:98447812..98450049,2	MCF-7	breast:
14	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
15	chr5:98461688..98463310-chr5:98465572..98467259,2	K562	blood:
16	chr5:98264688..98266479-chr5:98468438..98470812,2	K562	blood:

No data

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

Extended variants
information (count: 1462 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1462 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75060456	chr5:98440366-98440367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556358183	chr5:98440374-98440375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571599399	chr5:98440379-98440380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376424996	chr5:98440381-98440382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34869818	chr5:98440466-98440467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79262529	chr5:98440473-98440474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544785264	chr5:98440500-98440501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564782332	chr5:98440529-98440530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560516186	chr5:98440549-98440550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191218350	chr5:98440557-98440558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35779536	chr5:98440567-98440568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376069178	chr5:98440599-98440600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527688510	chr5:98440608-98440609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112851935	chr5:98440615-98440616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549126106	chr5:98440622-98440623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183234307	chr5:98440623-98440624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532178487	chr5:98440650-98440651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375500261	chr5:98440686-98440687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188556521	chr5:98440687-98440688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373992419	chr5:98440712-98440713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562428294	chr5:98440725-98440726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546533547	chr5:98440737-98440738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11738104	chr5:98440741-98440742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535490286	chr5:98440769-98440770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547873813	chr5:98440784-98440785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7720227	chr5:98440820-98440821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566037100	chr5:98440837-98440838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552420996	chr5:98440870-98440871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570834143	chr5:98440903-98440904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34778097	chr5:98440924-98440925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7715722	chr5:98440984-98440985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116748136	chr5:98441002-98441003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193062095	chr5:98441024-98441025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535894358	chr5:98441026-98441027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73148439	chr5:98441068-98441069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572434572	chr5:98441088-98441089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546239697	chr5:98441109-98441110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539605840	chr5:98441110-98441111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143642677	chr5:98441159-98441160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544067471	chr5:98441242-98441243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562749603	chr5:98441244-98441245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529854105	chr5:98441266-98441267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77243168	chr5:98441283-98441284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559833235	chr5:98441286-98441287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527267275	chr5:98441314-98441315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369931600	chr5:98441328-98441329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558335739	chr5:98441396-98441397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183514284	chr5:98441435-98441436	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34218854	chr5:98441445-98441446	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35541773	chr5:98441456-98441457	Flanking Active TSS Enhancers	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98438600-98441000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:98440600-98440800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:98440600-98441200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:98440600-98441400	Enhancers	HUVEC	blood vessel
5	chr5:98440600-98441800	Enhancers	Fetal Lung	lung
6	chr5:98441000-98441400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:98441400-98441600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:98441600-98441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:98441800-98442000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:98443000-98443400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:98443000-98443400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:98447600-98447800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:98455800-98456800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:98456000-98456800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:98465200-98465600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:98465200-98465800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:98465200-98466200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:98465200-98466600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:98465400-98466000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:98465400-98466200	Enhancers	Adipose Nuclei	Adipose
21	chr5:98465600-98466000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:98465600-98466000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:98465600-98466000	Enhancers	Fetal Kidney	kidney
24	chr5:98465600-98466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:98465600-98466200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:98465600-98466600	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:98465800-98466200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:98466200-98466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:98502400-98503200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:98502600-98502800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:98502600-98506600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:98502800-98503200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:98502800-98504000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:98503200-98503600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:98503200-98504400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:98503600-98504200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:98503800-98505800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:98504000-98505600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:98504200-98505200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:98504400-98505200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:98504600-98505400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:98504800-98505000	Enhancers	Brain Anterior Caudate	brain
43	chr5:98504800-98505600	Enhancers	HUVEC	blood vessel
44	chr5:98504800-98506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:98505200-98505400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:98505200-98505600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr5:98506000-98506400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:98506400-98506800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:98506600-98507400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:98507400-98507600	Enhancers	HUES48 Cell Line	embryonic stem cell

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