Variant report

Variant	rs11850239
Chromosome Location	chr14:72493292-72493293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr14:72493282-72493349	H1-hESC	embryonic stem cell:	n/a	chr14:72493330-72493341 chr14:72493332-72493339 chr14:72493331-72493340 chr14:72493330-72493340
2	USF2	chr14:72493217-72493496	GM12878	blood:	n/a	n/a
3	MAX	chr14:72493189-72493492	NB4	blood:	n/a	chr14:72493330-72493341 chr14:72493332-72493339 chr14:72493331-72493340 chr14:72493330-72493340
4	NFE2	chr14:72493279-72493358	GM12878	blood:	n/a	n/a
5	RUNX3	chr14:72493122-72493594	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000200298	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11844223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11844287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845023	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11846808	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846932	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846989	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847719	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847881	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11848888	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849072	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851082	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852228	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17107306	0.83[TSI][hapmap]
rs17768491	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2012352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2012354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108709	1.00[JPT][hapmap]
rs2190871	1.00[JPT][hapmap]
rs36746	1.00[JPT][hapmap]
rs4262883	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4374087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4383069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899414	1.00[JPT][hapmap]
rs4899415	1.00[JPT][hapmap]
rs4899416	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899417	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899418	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899420	1.00[JPT][hapmap]
rs4899427	0.83[TSI][hapmap]
rs4902967	1.00[JPT][hapmap]
rs4902968	1.00[JPT][hapmap]
rs4902969	1.00[JPT][hapmap]
rs4902970	1.00[JPT][hapmap]
rs4902973	1.00[JPT][hapmap]
rs4902975	1.00[JPT][hapmap]
rs4902979	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4902980	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56098489	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56879125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57851285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58117647	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59008832	1.00[EUR][1000 genomes]
rs60103614	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60517172	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734424	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060456	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063009	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063026	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063030	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs758235	1.00[JPT][hapmap]
rs8003097	1.00[JPT][hapmap]
rs8004427	1.00[JPT][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053520	chr14:72485195-72537202	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72490000-72494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72491600-72493600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72493200-72493600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr14:72493200-72493600	Enhancers	Brain Substantia Nigra	brain
5	chr14:72493200-72493600	Enhancers	Left Ventricle	heart

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