Variant report

Variant	rs4865115
Chromosome Location	chr4:57397910-57397911
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57331864..57334391-chr4:57396918..57398546,3	MCF-7	breast:
2	chr4:57297760..57299581-chr4:57396785..57398752,2	MCF-7	breast:
3	chr4:57332142..57335262-chr4:57394352..57398997,8	K562	blood:
4	chr4:57331783..57334990-chr4:57394745..57398997,7	K562	blood:
5	chr4:57299474..57303800-chr4:57395386..57399526,7	K562	blood:
6	chr4:57298757..57303397-chr4:57395270..57398462,7	K562	blood:
7	chr4:57396793..57399968-chr4:57400354..57402510,5	K562	blood:
8	chr4:57251883..57253946-chr4:57396755..57399062,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128059	Chromatin interaction
ENSG00000269921	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000157426	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12509434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4391105	0.84[MEX][hapmap]
rs56079145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57896942	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61045472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv829941	chr4:57359551-57553136	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3447654	chr4:57395445-57397943	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4865115	PAICS	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57396200-57398000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr4:57396200-57398000	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:57396200-57398200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:57397000-57398000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:57397200-57398000	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr4:57397200-57398000	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr4:57397200-57398000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
8	chr4:57397200-57398400	Flanking Active TSS	Fetal Heart	heart
9	chr4:57397400-57398200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr4:57397400-57398400	Flanking Active TSS	K562	blood
11	chr4:57397600-57398000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr4:57397600-57398000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:57397600-57398000	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr4:57397600-57398000	Bivalent/Poised TSS	NHLF	lung
15	chr4:57397600-57398200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:57397600-57398200	Active TSS	Stomach Smooth Muscle	stomach
17	chr4:57397600-57398400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:57397600-57398400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:57397800-57398000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:57397800-57398000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:57397800-57398000	Bivalent Enhancer	Primary T cells from cord blood	blood
22	chr4:57397800-57398000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:57397800-57398000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr4:57397800-57398000	Enhancers	Right Ventricle	heart
25	chr4:57397800-57398000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr4:57397800-57398200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:57397800-57398200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:57397800-57410600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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