Variant report

Variant	rs904505
Chromosome Location	chr1:224807013-224807014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224797935..224800597-chr1:224806842..224809051,3	MCF-7	breast:
2	chr1:224802908..224805132-chr1:224806672..224808606,2	MCF-7	breast:
3	chr1:224805248..224807412-chr1:224827891..224830752,2	K562	blood:
4	chr1:224806254..224809054-chr1:224817462..224819155,2	K562	blood:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction
ENSG00000233384	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10799589	0.86[CEU][hapmap]
rs10916653	0.81[EUR][1000 genomes]
rs12564263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1353837	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1566386	0.87[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1566387	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs1566388	0.84[EUR][1000 genomes]
rs16850250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1932991	0.80[EUR][1000 genomes]
rs2405317	0.83[EUR][1000 genomes]
rs4654057	0.84[EUR][1000 genomes]
rs4654058	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4654060	0.80[EUR][1000 genomes]
rs6658957	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6665204	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6690184	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6697510	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs6699331	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7516323	0.81[EUR][1000 genomes]
rs7529774	0.84[EUR][1000 genomes]
rs7532595	0.83[EUR][1000 genomes]
rs883115	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224803200-224807200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:224803200-224807400	Active TSS	NHDF-Ad	bronchial
3	chr1:224803800-224807800	Active TSS	NH-A	brain
4	chr1:224805400-224807400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224805400-224808000	Flanking Active TSS	Dnd41	blood
6	chr1:224805600-224807200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:224805800-224812200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:224806000-224808800	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr1:224806000-224811800	Weak transcription	Spleen	Spleen
10	chr1:224806200-224808000	Active TSS	NHLF	lung
11	chr1:224806200-224810400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:224806200-224810400	Weak transcription	Pancreas	Pancrea
13	chr1:224806400-224807400	Active TSS	Brain Hippocampus Middle	brain
14	chr1:224806600-224812800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:224806600-224813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:224806800-224807600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:224807000-224807200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:224807000-224807200	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr1:224807000-224807200	Flanking Active TSS	HMEC	breast
20	chr1:224807000-224809200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:224807000-224810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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