Variant report

Variant	nsv1032071
Chromosome Location	chr5:99744972-99828301
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:7)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99813306..99815252-chr5:99818447..99820144,2	K562	blood:
2	chr5:99763910..99766552-chr5:99768110..99770337,2	MCF-7	breast:
3	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
4	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
5	chr4:32147186..32148048-chr5:99775915..99776706,2	MCF-7	breast:
6	chr5:99763910..99766552-chr5:99768110..99770337,2	MCF-7	breast:
7	chr5:99813306..99815252-chr5:99818447..99820144,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174A-1	chr5:99755149-99755217	XLOC_004490
2	lnc-ST8SIA4-3	chr5:99786639-99786801	ENSG00000247877
3	lnc-ST8SIA4-3	chr5:99792761-99792828	ENSG00000247877
4	lnc-ST8SIA4-3	chr5:99785458-99786801	ENSG00000247877
5	lnc-FAM174A-1	chr5:99755149-99755217	NONHSAT103000
6	lnc-ST8SIA4-3	chr5:99785458-99786801	NONHSAT103002
7	lnc-FAM174A-1	chr5:99755954-99756151	NONHSAT103000
8	lnc-FAM174A-1	chr5:99755954-99756452	XLOC_004490
9	lnc-FAM174A-1	chr5:99759095-99759158	NONHSAT103000

No data

Variant related genes	Relation type
TJAP1	miRNA target sites
FAM190B	miRNA target sites
RLF	miRNA target sites
EIF2B1	miRNA target sites

Extended variants
information (count: 1174 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186392540	chr5:99744979-99744980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191102214	chr5:99745008-99745009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543722376	chr5:99745047-99745048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549852130	chr5:99745049-99745050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544569666	chr5:99745081-99745082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568221614	chr5:99745091-99745092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529119582	chr5:99745131-99745132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147266306	chr5:99745193-99745194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566976778	chr5:99745221-99745222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534144229	chr5:99745241-99745242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72772782	chr5:99745264-99745265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140783435	chr5:99745334-99745335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75866414	chr5:99745339-99745340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11745055	chr5:99745346-99745347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9327117	chr5:99745351-99745352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567442667	chr5:99745352-99745353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77445800	chr5:99745364-99745365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553403251	chr5:99745368-99745369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182937110	chr5:99745474-99745475	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150973177	chr5:99745483-99745484	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76101168	chr5:99745489-99745490	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs78648532	chr5:99745500-99745501	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs543671057	chr5:99745514-99745515	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11745104	chr5:99745560-99745561	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187527020	chr5:99745615-99745616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs140831349	chr5:99745629-99745630	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549960935	chr5:99745655-99745656	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565924644	chr5:99745766-99745767	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs11738482	chr5:99745767-99745768	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs77798373	chr5:99745798-99745799	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538957973	chr5:99745838-99745839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116112419	chr5:99745864-99745865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192569809	chr5:99745923-99745924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113995853	chr5:99745933-99745934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550421031	chr5:99745995-99745996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183253276	chr5:99746001-99746002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201029629	chr5:99746010-99746011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199559970	chr5:99746011-99746012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72060945	chr5:99746012-99746013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78660727	chr5:99746013-99746014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535611638	chr5:99746059-99746060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553935127	chr5:99746100-99746101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572349067	chr5:99746146-99746147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539496198	chr5:99746165-99746166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557598802	chr5:99746168-99746169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575967071	chr5:99746184-99746185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146768297	chr5:99746189-99746190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561979340	chr5:99746190-99746191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569881347	chr5:99746196-99746197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140227110	chr5:99746214-99746215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99744000-99745400	Enhancers	Fetal Brain Male	brain
2	chr5:99744600-99746000	Enhancers	Fetal Lung	lung
3	chr5:99744800-99745400	Enhancers	Brain Germinal Matrix	brain
4	chr5:99745400-99745800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:99745400-99745800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:99745400-99745800	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr5:99745400-99745800	Flanking Active TSS	Fetal Brain Male	brain
8	chr5:99745600-99746000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:99745800-99746000	Enhancers	Brain Germinal Matrix	brain
10	chr5:99745800-99747200	Enhancers	Fetal Brain Male	brain
11	chr5:99746000-99753200	Weak transcription	Fetal Lung	lung
12	chr5:99753200-99753400	Enhancers	Fetal Lung	lung
13	chr5:99753400-99760000	Weak transcription	Fetal Lung	lung
14	chr5:99753800-99765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:99754000-99754200	Enhancers	Brain Germinal Matrix	brain
16	chr5:99754200-99756400	Weak transcription	Brain Germinal Matrix	brain
17	chr5:99754400-99755600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:99755600-99756400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:99758200-99758400	Enhancers	HSMM	muscle
20	chr5:99758200-99759200	Enhancers	HSMMtube	muscle
21	chr5:99758600-99759000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:99758800-99759200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:99759000-99759200	Enhancers	HSMM	muscle
24	chr5:99759000-99759600	Enhancers	Hela-S3	cervix
25	chr5:99759000-99759600	Enhancers	HUVEC	blood vessel
26	chr5:99759000-99760200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:99759600-99760000	Weak transcription	Hela-S3	cervix
28	chr5:99759600-99760000	Weak transcription	HUVEC	blood vessel
29	chr5:99760000-99760400	Enhancers	Hela-S3	cervix
30	chr5:99760000-99760400	Enhancers	HUVEC	blood vessel
31	chr5:99760000-99761000	ZNF genes & repeats	Fetal Lung	lung
32	chr5:99760000-99761600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr5:99760200-99760600	ZNF genes & repeats	Fetal Kidney	kidney
34	chr5:99760200-99761400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:99761600-99762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:99762200-99762400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:99766200-99767000	Enhancers	Fetal Lung	lung
38	chr5:99766200-99767400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:99767400-99769000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:99769000-99770800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr5:99770400-99770800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:99770400-99770800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:99776400-99776800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:99782600-99786400	Enhancers	Fetal Lung	lung
45	chr5:99783800-99784400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:99783800-99784600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:99790200-99790800	Enhancers	HUVEC	blood vessel
48	chr5:99799600-99800000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:99800000-99800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:99800000-99800600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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