Variant report

Variant	rs12315111
Chromosome Location	chr12:29582329-29582330
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29581032..29583088-chr12:29583675..29586348,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10161532	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs10492378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11050164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11050165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11050211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs11050227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11050228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11050230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12298758	1.00[CHB][hapmap]
rs12304563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12305672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12305868	1.00[AMR][1000 genomes]
rs12308214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12314430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314964	1.00[AMR][1000 genomes]
rs12316548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs12318046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12319953	0.82[AFR][1000 genomes]
rs12320036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12321184	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1369901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16934110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs16934299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs34730070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3816113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs56331080	1.00[AMR][1000 genomes]
rs56753618	1.00[AMR][1000 genomes]
rs57061071	1.00[AMR][1000 genomes]
rs74081043	1.00[AMR][1000 genomes]
rs74081044	1.00[AMR][1000 genomes]

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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv525100	chr12:29576517-29585955	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29571000-29583400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29578000-29583200	Enhancers	Hela-S3	cervix
3	chr12:29579800-29583800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:29580000-29583400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:29581200-29582400	Enhancers	HMEC	breast
6	chr12:29581200-29583800	Enhancers	Duodenum Mucosa	Duodenum
7	chr12:29581400-29582400	Enhancers	NHEK	skin
8	chr12:29581400-29582600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:29581400-29584000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:29581600-29583200	Weak transcription	K562	blood
11	chr12:29581600-29604200	Weak transcription	HSMMtube	muscle
12	chr12:29581800-29583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:29582200-29583600	Enhancers	Monocytes-CD14+_RO01746	blood

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