Variant report

Variant	rs12082133
Chromosome Location	chr1:223575202-223575203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223574260..223577674-chr1:223613937..223618124,4	MCF-7	breast:
2	chr1:223536303..223538270-chr1:223574488..223576964,2	K562	blood:

Variant related genes	Relation type
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10907375	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11261265	0.93[EUR][1000 genomes]
rs11261268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11261269	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11579995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12064476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12074609	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12074782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078619	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087387	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12094897	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12405882	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400964	0.90[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs1713213	0.89[CHB][hapmap]
rs17162005	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17163836	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1914612	1.00[ASW][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2298063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353204	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2501982	0.96[EUR][1000 genomes]
rs2678369	0.90[CHB][hapmap];0.93[GIH][hapmap]
rs2678370	0.81[CHB][hapmap];0.87[GIH][hapmap]
rs28788929	0.87[ASN][1000 genomes]
rs28897212	0.87[ASN][1000 genomes]
rs35345617	1.00[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35727959	1.00[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35736338	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35996176	0.90[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.81[ASN][1000 genomes]
rs59584296	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61838233	0.81[ASN][1000 genomes]
rs61838244	0.81[ASN][1000 genomes]
rs6661314	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6677044	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679661	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6682552	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6689850	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6700523	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6701453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs825148	0.90[CHB][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap]
rs866637	0.90[CHB][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap]

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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223574600-223575600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:223575000-223576600	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223575000-223576800	Enhancers	Osteobl	bone
4	chr1:223575200-223575400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:223575200-223575400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:223575200-223575600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:223575200-223575800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:223575200-223576000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:223575200-223576000	Enhancers	K562	blood
10	chr1:223575200-223576800	Enhancers	A549	lung
11	chr1:223575200-223577000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:223575200-223577000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:223575200-223577000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:223575200-223577000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:223575200-223577000	Enhancers	NH-A	brain
16	chr1:223575200-223577000	Enhancers	NHLF	lung

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