Variant report

Variant	esv3470561
Chromosome Location	chr5:95964796-95969194
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	chr5:95966687..95968583-chr5:95970116..95972332,2	K562	blood:
3	chr5:95962343..95964474-chr5:95964579..95968462,3	K562	blood:
4	chr5:95968361..95971123-chr5:95977379..95979462,2	K562	blood:
5	chr5:95962754..95968222-chr5:95995730..96000718,6	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000153113	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140787517	chr5:95964805-95964806	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs155046	chr5:95964823-95964824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs144634680	chr5:95964884-95964885	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549384447	chr5:95964887-95964888	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77636792	chr5:95964895-95964896	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528867157	chr5:95964896-95964897	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183197077	chr5:95964900-95964901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564761923	chr5:95964939-95964940	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376488077	chr5:95964962-95964963	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565542673	chr5:95965007-95965008	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187858781	chr5:95965041-95965042	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530491456	chr5:95965047-95965048	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551516037	chr5:95965048-95965049	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569837448	chr5:95965116-95965117	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370886901	chr5:95965117-95965118	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs155045	chr5:95965126-95965127	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191143525	chr5:95965135-95965136	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139412099	chr5:95965154-95965155	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534707842	chr5:95965190-95965191	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150074558	chr5:95965197-95965198	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577626775	chr5:95965221-95965222	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17086408	chr5:95965235-95965236	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs78833573	chr5:95965256-95965257	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575412303	chr5:95965287-95965288	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114479720	chr5:95965299-95965300	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149201389	chr5:95965333-95965334	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528736266	chr5:95965342-95965343	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143778305	chr5:95965363-95965364	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559356766	chr5:95965389-95965390	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532976722	chr5:95965440-95965441	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183967803	chr5:95965514-95965515	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140860236	chr5:95965587-95965588	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530607335	chr5:95965593-95965594	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549209140	chr5:95965611-95965612	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187735016	chr5:95965619-95965620	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376066443	chr5:95965629-95965630	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368616035	chr5:95965638-95965639	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553011096	chr5:95965641-95965642	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551970198	chr5:95965647-95965648	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144605032	chr5:95965657-95965658	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192354974	chr5:95965767-95965768	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4869300	chr5:95965811-95965812	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs155044	chr5:95965857-95965858	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555105208	chr5:95965872-95965873	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184685618	chr5:95965930-95965931	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188156411	chr5:95966074-95966075	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557487787	chr5:95966089-95966090	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4869301	chr5:95966122-95966123	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371951587	chr5:95966135-95966136	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375330618	chr5:95966218-95966219	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95951400-95965000	Weak transcription	HUVEC	blood vessel
2	chr5:95954000-95965400	Weak transcription	Aorta	Aorta
3	chr5:95958400-95965400	Weak transcription	NHLF	lung
4	chr5:95961200-95966200	Enhancers	HSMM	muscle
5	chr5:95961200-95966200	Enhancers	NH-A	brain
6	chr5:95961200-95966400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:95961200-95966600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:95961200-95967200	Enhancers	HMEC	breast
9	chr5:95961400-95967000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:95962000-95966200	Enhancers	HSMMtube	muscle
11	chr5:95962000-95966400	Enhancers	Osteobl	bone
12	chr5:95962200-95967000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:95962400-95965600	Weak transcription	Right Atrium	heart
14	chr5:95962600-95965000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:95963400-95965000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:95963400-95966400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:95963400-95966800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:95963400-95967000	Enhancers	Hela-S3	cervix
19	chr5:95963800-95964800	Flanking Active TSS	A549	lung
20	chr5:95963800-95965000	Enhancers	NHEK	skin
21	chr5:95963800-95965200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:95964200-95965200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:95964200-95965400	Enhancers	Fetal Lung	lung
24	chr5:95964200-95966200	Enhancers	Stomach Mucosa	stomach
25	chr5:95964400-95964800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:95964400-95965000	Enhancers	Fetal Heart	heart
27	chr5:95964400-95965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:95964600-95964800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:95964600-95965000	Enhancers	Esophagus	oesophagus
30	chr5:95964600-95965000	Weak transcription	HepG2	liver
31	chr5:95964600-95965000	Weak transcription	NHDF-Ad	bronchial
32	chr5:95964600-95965400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:95964800-95965600	Enhancers	A549	lung
34	chr5:95964800-95966400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:95965000-95965400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:95965000-95965400	Weak transcription	Fetal Heart	heart
37	chr5:95965000-95965800	Enhancers	HepG2	liver
38	chr5:95965000-95966000	Flanking Active TSS	NHEK	skin
39	chr5:95965000-95966200	Enhancers	HUVEC	blood vessel
40	chr5:95965000-95966200	Enhancers	NHDF-Ad	bronchial
41	chr5:95965200-95965400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:95965200-95966000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:95965200-95966200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:95965400-95965600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:95965400-95965600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:95965400-95965600	Enhancers	Aorta	Aorta
47	chr5:95965400-95966000	Enhancers	Fetal Heart	heart
48	chr5:95965400-95966200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:95965400-95966200	Enhancers	NHLF	lung
50	chr5:95965400-95966400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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