Variant report

Variant	rs11836726
Chromosome Location	chr12:104558476-104558477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104545972..104549947-chr12:104555023..104560302,4	K562	blood:
2	chr12:104534094..104536721-chr12:104557947..104560428,2	MCF-7	breast:
3	chr12:104553666..104555639-chr12:104557708..104559504,2	K562	blood:
4	chr12:104542011..104544016-chr12:104556575..104558622,2	MCF-7	breast:
5	chr12:104531056..104533803-chr12:104557719..104561243,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11111916	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11111917	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11111940	0.89[CHD][hapmap];0.90[JPT][hapmap]
rs11613944	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11829709	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17806643	0.85[MEX][hapmap]
rs4246260	0.87[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap];0.90[ASN][1000 genomes]
rs4246261	0.88[ASN][1000 genomes]
rs4321026	0.84[ASN][1000 genomes]
rs4371000	0.94[ASN][1000 genomes]
rs4445711	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs4522249	0.84[ASN][1000 genomes]
rs4964626	0.92[ASN][1000 genomes]
rs4964628	0.91[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs4964678	0.84[ASN][1000 genomes]
rs61939220	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6539125	0.82[JPT][hapmap]
rs7297296	0.84[ASN][1000 genomes]
rs7297956	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs7957744	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7958262	0.90[JPT][hapmap]
rs7961381	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7966970	0.84[ASN][1000 genomes]
rs7969538	0.90[ASN][1000 genomes]
rs7972172	0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs9668556	0.84[ASN][1000 genomes]
rs9705582	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
4	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
6	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104533000-104560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104558000-104558800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:104558200-104558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:104558200-104559000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:104558200-104559200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:104558400-104560600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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