Variant report

Variant	rs17092406
Chromosome Location	chr12:43316610-43316611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:43316539..43318480-chr12:43326866..43329515,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12306560	0.96[ASN][1000 genomes]
rs12317369	0.87[ASN][1000 genomes]
rs1435712	0.96[ASN][1000 genomes]
rs1520820	0.96[ASN][1000 genomes]
rs2043553	0.87[ASN][1000 genomes]
rs57735610	0.96[ASN][1000 genomes]
rs58957660	0.96[ASN][1000 genomes]
rs60441026	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60668239	0.96[ASN][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43314400-43317000	Enhancers	HMEC	breast
2	chr12:43314400-43317600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:43315000-43318200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:43315200-43316800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:43315200-43318000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr12:43315200-43318800	Enhancers	Fetal Lung	lung
7	chr12:43315400-43318000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:43315600-43316800	Enhancers	Fetal Intestine Small	intestine
9	chr12:43315800-43317800	Enhancers	Fetal Heart	heart
10	chr12:43315800-43319000	Enhancers	Adipose Nuclei	Adipose
11	chr12:43316000-43317000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:43316000-43318600	Enhancers	Psoas Muscle	Psoas
13	chr12:43316200-43317600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:43316200-43317800	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:43316400-43316800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:43316400-43317400	Weak transcription	Fetal Stomach	stomach
17	chr12:43316400-43317600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:43316600-43317000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:43316600-43317000	Enhancers	Fetal Brain Male	brain
20	chr12:43316600-43317600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:43316600-43318000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:43316600-43318000	Enhancers	NHEK	skin

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