Variant report

Variant	rs12464505
Chromosome Location	chr2:100876693-100876694
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100868663..100870947-chr2:100874796..100876826,2	K562	blood:
2	chr2:100876613..100880348-chr2:101031611..101035939,8	K562	blood:
3	chr2:100875966..100878799-chr2:100906876..100908974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10170878	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10173499	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11886523	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12463633	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464433	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12467008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12472141	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13024601	1.00[JPT][hapmap]
rs13394110	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397010	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13397337	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17023843	0.80[EUR][1000 genomes]
rs2309815	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2309818	1.00[JPT][hapmap]
rs2309819	1.00[JPT][hapmap]
rs2309820	1.00[JPT][hapmap]
rs2309821	1.00[JPT][hapmap]
rs2309825	1.00[JPT][hapmap]
rs2309826	1.00[JPT][hapmap]
rs2871341	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34044131	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4851281	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851282	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55856206	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57328601	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60501704	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62148117	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62148118	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542923	1.00[JPT][hapmap]
rs6707358	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6724490	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6727712	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6754867	1.00[JPT][hapmap]
rs6755791	1.00[JPT][hapmap]
rs72821119	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821120	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72821122	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72821124	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72821125	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72821126	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72821130	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72821133	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7421891	1.00[JPT][hapmap]
rs7601873	1.00[JPT][hapmap]
rs7607170	1.00[JPT][hapmap]
rs7609376	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
3	chr2:100874600-100879200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100874600-100891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:100875000-100877000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:100875000-100877200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:100875000-100877200	Weak transcription	Ovary	ovary
8	chr2:100875200-100877000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:100875200-100881600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:100875600-100877200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:100876400-100877600	Enhancers	Fetal Brain Male	brain
12	chr2:100876400-100877600	Enhancers	Fetal Brain Female	brain

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