Variant report

Variant	esv3402298
Chromosome Location	chr5:95965821-95968569
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95968426..95970415-chr5:95992191..95994146,2	MCF-7	breast:
2	chr5:95962754..95968222-chr5:95995730..96000718,6	MCF-7	breast:
3	chr5:95966687..95968583-chr5:95970116..95972332,2	K562	blood:
4	chr5:95968361..95971123-chr5:95977379..95979462,2	K562	blood:
5	chr5:95962343..95964474-chr5:95964579..95968462,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAST-4	chr5:95966671-95966789	ENSG00000251314.1
2	lnc-CAST-4	chr5:95966671-95966789	ENSG00000251314.2
3	lnc-CAST-4	chr5:95966671-95966704	ENSG00000251314.1
4	lnc-CAST-4	chr5:95966671-95966789	NONHSAT102897

No data

Variant related genes	Relation type
ENSG00000153113	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs155044	chr5:95965857-95965858	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555105208	chr5:95965872-95965873	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184685618	chr5:95965930-95965931	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188156411	chr5:95966074-95966075	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557487787	chr5:95966089-95966090	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4869301	chr5:95966122-95966123	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371951587	chr5:95966135-95966136	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375330618	chr5:95966218-95966219	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148205401	chr5:95966257-95966258	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561175152	chr5:95966280-95966281	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73134563	chr5:95966301-95966302	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545060376	chr5:95966376-95966377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35530229	chr5:95966388-95966389	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571875402	chr5:95966455-95966456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138074543	chr5:95966461-95966462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548818320	chr5:95966472-95966473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191788149	chr5:95966539-95966540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199646930	chr5:95966546-95966547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376607154	chr5:95966555-95966556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72341024	chr5:95966556-95966557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372784422	chr5:95966571-95966572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553097221	chr5:95966589-95966590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561105092	chr5:95966602-95966603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528297393	chr5:95966609-95966610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544920562	chr5:95966647-95966648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140912281	chr5:95966648-95966649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189250891	chr5:95966658-95966659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538639790	chr5:95966695-95966696	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs550513946	chr5:95966713-95966714	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs114464243	chr5:95966720-95966721	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs536716135	chr5:95966754-95966755	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs554787819	chr5:95966766-95966767	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs143653087	chr5:95966785-95966786	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs147183998	chr5:95966796-95966797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192396178	chr5:95966797-95966798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73134566	chr5:95966806-95966807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139152014	chr5:95966882-95966883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185622481	chr5:95966892-95966893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560606025	chr5:95966948-95966949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529753347	chr5:95966971-95966972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556242505	chr5:95966972-95966973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113288895	chr5:95966976-95966977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542681120	chr5:95966995-95966996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372615453	chr5:95967007-95967008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189304189	chr5:95967037-95967038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73134569	chr5:95967038-95967039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369974080	chr5:95967069-95967070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77791978	chr5:95967071-95967072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549164328	chr5:95967121-95967122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73136632	chr5:95967163-95967164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95961200-95966200	Enhancers	HSMM	muscle
2	chr5:95961200-95966200	Enhancers	NH-A	brain
3	chr5:95961200-95966400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:95961200-95966600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:95961200-95967200	Enhancers	HMEC	breast
6	chr5:95961400-95967000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:95962000-95966200	Enhancers	HSMMtube	muscle
8	chr5:95962000-95966400	Enhancers	Osteobl	bone
9	chr5:95962200-95967000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:95963400-95966400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:95963400-95966800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:95963400-95967000	Enhancers	Hela-S3	cervix
13	chr5:95964200-95966200	Enhancers	Stomach Mucosa	stomach
14	chr5:95964800-95966400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:95965000-95966000	Flanking Active TSS	NHEK	skin
16	chr5:95965000-95966200	Enhancers	HUVEC	blood vessel
17	chr5:95965000-95966200	Enhancers	NHDF-Ad	bronchial
18	chr5:95965200-95966000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:95965200-95966200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:95965400-95966000	Enhancers	Fetal Heart	heart
21	chr5:95965400-95966200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:95965400-95966200	Enhancers	NHLF	lung
23	chr5:95965400-95966400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:95965400-95967200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95965600-95966000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:95965600-95966000	Flanking Active TSS	A549	lung
27	chr5:95965600-95966200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:95965800-95966000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:95966000-95966400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:95966000-95967200	Enhancers	A549	lung
31	chr5:95966000-95967200	Enhancers	NHEK	skin
32	chr5:95966200-95966400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:95966200-95969000	Weak transcription	Stomach Mucosa	stomach
34	chr5:95966200-95969200	Weak transcription	NHDF-Ad	bronchial
35	chr5:95966200-95969400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:95966200-95969400	Weak transcription	NHLF	lung
37	chr5:95966200-95973400	Weak transcription	HUVEC	blood vessel
38	chr5:95966400-95966800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:95966400-95966800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:95966400-95969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:95966400-95969200	Weak transcription	Osteobl	bone
42	chr5:95966400-95969400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:95966400-95969400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:95966600-95969200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:95966800-95967000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:95966800-95967000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:95967000-95969400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:95967000-95969600	Weak transcription	Hela-S3	cervix
49	chr5:95967000-95972600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:95967000-95974400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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