Variant report

Variant	rs12507217
Chromosome Location	chr4:91743538-91743539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1454329	1.00[ASW][hapmap];0.90[CEU][hapmap];0.83[CHB][hapmap];0.80[MEX][hapmap]
rs17183653	0.85[CEU][hapmap]
rs17183896	0.85[CEU][hapmap];0.80[MEX][hapmap]
rs17185435	1.00[ASW][hapmap];0.90[CEU][hapmap];0.84[CHB][hapmap];0.80[MEX][hapmap];0.85[AFR][1000 genomes]
rs17185519	1.00[ASW][hapmap];0.90[CEU][hapmap];0.84[CHB][hapmap];0.80[MEX][hapmap];0.93[AFR][1000 genomes]
rs17187179	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap]
rs17188168	0.89[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs17188252	0.90[CEU][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs17243751	0.83[CEU][hapmap]
rs17244178	0.85[CEU][hapmap]
rs17244283	1.00[ASW][hapmap];0.90[CEU][hapmap];0.80[MEX][hapmap]
rs17245345	0.89[CEU][hapmap];0.82[CHB][hapmap];0.93[AFR][1000 genomes]
rs17246676	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap]
rs17247719	0.88[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17248796	0.89[CEU][hapmap]
rs3796673	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6822939	0.90[CEU][hapmap];0.90[TSI][hapmap]
rs6833272	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs723781	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs723782	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs749653	0.90[CEU][hapmap];0.84[CHB][hapmap];0.93[AFR][1000 genomes]
rs7663098	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv534470	chr4:91342219-91842807	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv428766	chr4:91618397-91768647	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv879553	chr4:91691313-91868576	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879555	chr4:91743538-91967602	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr4:91735400-91745800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:91735600-91754200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:91736400-91753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:91738600-91744000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:91738600-91744200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:91738600-91745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:91738600-91745200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:91740000-91744600	Weak transcription	Pancreas	Pancrea

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