Variant report

Variant	rs73350835
Chromosome Location	chr12:74688853-74688854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:74685342..74687615-chr12:74688335..74689861,2	K562	blood:
2	chr12:74636496..74638215-chr12:74687391..74689120,2	K562	blood:
3	chr12:74687125..74689371-chr12:74929648..74931476,2	K562	blood:

Variant related genes	Relation type
ENSG00000257364	Chromatin interaction
ENSG00000251138	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506691	1.00[EUR][1000 genomes]
rs11179924	1.00[AMR][1000 genomes]
rs11179938	1.00[AMR][1000 genomes]
rs11179961	1.00[AMR][1000 genomes]
rs11179988	1.00[EUR][1000 genomes]
rs11179989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11503770	1.00[AMR][1000 genomes]
rs12297190	1.00[AMR][1000 genomes]
rs12299538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302448	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307332	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309372	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317803	1.00[EUR][1000 genomes]
rs12318521	1.00[EUR][1000 genomes]
rs12320395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1522126	1.00[EUR][1000 genomes]
rs17113226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1982597	1.00[EUR][1000 genomes]
rs59771966	1.00[EUR][1000 genomes]
rs59917367	1.00[EUR][1000 genomes]
rs7133693	1.00[EUR][1000 genomes]
rs7315551	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73335503	1.00[EUR][1000 genomes]
rs73350030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350842	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351746	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73352806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73352828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74105463	1.00[EUR][1000 genomes]
rs74106716	1.00[EUR][1000 genomes]
rs7961059	1.00[EUR][1000 genomes]
rs7971410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973162	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9652042	1.00[AMR][1000 genomes]
rs980785	1.00[EUR][1000 genomes]
rs9919749	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv523765	chr12:74680999-74749476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74681400-74690800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:74686600-74689000	Weak transcription	Right Atrium	heart
3	chr12:74688200-74691800	Weak transcription	K562	blood

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