Variant report

Variant	rs462319
Chromosome Location	chr5:95007270-95007271
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:95005377..95009942-chr5:95032567..95034719,5	MCF-7	breast:
2	chr5:94981743..94984160-chr5:95003178..95007454,4	MCF-7	breast:
3	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
4	chr5:95005419..95015076-chr5:95065455..95072981,19	MCF-7	breast:
5	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
6	chr5:95006472..95010092-chr5:95070112..95072894,3	MCF-7	breast:
7	chr5:95006484..95009767-chr5:95065115..95069672,5	MCF-7	breast:
8	chr5:95006572..95009487-chr5:95081876..95084806,3	K562	blood:
9	chr5:95007000..95009059-chr5:95032542..95035074,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction
ENSG00000145757	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12658215	0.85[ASN][1000 genomes]
rs183327	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs185313	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2548121	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2548122	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34901	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40098	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs460697	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs461873	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs462944	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:95003000-95007600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:95003400-95007800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:95004400-95008400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:95005000-95010400	Enhancers	Placenta	Placenta
6	chr5:95005200-95007600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:95005200-95007600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:95005600-95007400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:95005600-95007800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:95005600-95008200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:95005800-95007800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:95005800-95007800	Weak transcription	K562	blood
13	chr5:95005800-95009800	Weak transcription	Aorta	Aorta
14	chr5:95006000-95007600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:95006000-95009800	Enhancers	HepG2	liver
16	chr5:95006000-95015000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:95006200-95007600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:95006200-95008600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:95006400-95007800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:95006400-95008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:95006600-95007400	Weak transcription	Fetal Heart	heart
22	chr5:95006600-95007600	Weak transcription	Right Atrium	heart
23	chr5:95006600-95007800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:95006600-95008800	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:95006600-95008800	Weak transcription	Ovary	ovary
26	chr5:95006600-95009000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:95006600-95010000	Weak transcription	Psoas Muscle	Psoas
28	chr5:95006800-95007800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:95006800-95007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:95006800-95007800	Weak transcription	Liver	Liver
31	chr5:95006800-95009200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:95007000-95008200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:95007200-95007600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links