Variant report

Variant	rs2229357
Chromosome Location	chr12:57843711-57843712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:57843603-57843771	HepG2	liver:	n/a	n/a
2	CTCF	chr12:57843555-57843800	K562	blood:	n/a	n/a
3	CTCF	chr12:57843551-57843835	K562	blood:	n/a	n/a
4	CTCF	chr12:57843580-57843730	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57842276..57845033-chr12:57882153..57884976,2	K562	blood:
2	chr12:57841988..57844385-chr12:57912875..57915814,2	K562	blood:
3	chr12:57840047..57842251-chr12:57842325..57845247,2	K562	blood:
4	chr12:57818076..57819912-chr12:57842530..57844475,2	MCF-7	breast:
5	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
6	chr12:57843448..57846710-chr12:57847033..57851571,4	MCF-7	breast:

No data

Variant related genes	Relation type
INHBE	TF binding region
ENSG00000139269	Chromatin interaction
ENSG00000175189	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000166987	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1106766	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11172147	1.00[JPT][hapmap]
rs11172181	0.86[EUR][1000 genomes]
rs11609805	1.00[JPT][hapmap]
rs11613352	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11614506	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12313306	0.81[EUR][1000 genomes]
rs12315434	0.83[EUR][1000 genomes]
rs2122982	0.88[EUR][1000 genomes]
rs3741414	0.88[CHB][hapmap];1.00[JPT][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]
rs4760254	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4760278	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4760355	1.00[JPT][hapmap]
rs540730	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs56152729	0.87[EUR][1000 genomes]
rs61352607	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73119306	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7964492	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7971133	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7974833	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57825600-57848600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57841800-57846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:57842000-57846000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:57842400-57844000	Genic enhancers	Liver	Liver
5	chr12:57843400-57844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:57843600-57844000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:57843600-57844600	Enhancers	HepG2	liver
8	chr12:57843600-57850400	Enhancers	Fetal Intestine Large	intestine

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