Variant report

Variant	rs17040806
Chromosome Location	chr12:86874591-86874592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86873477..86875774-chr12:86880255..86882982,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10858415	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11103930	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11830208	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11835193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12303046	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12319410	0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap]
rs12319593	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs12579580	1.00[ASW][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap]
rs12581639	1.00[ASW][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap]
rs12581912	0.87[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap]
rs12582767	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs17013981	0.94[JPT][hapmap];0.94[YRI][hapmap]
rs17014005	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap]
rs17014008	0.94[JPT][hapmap]
rs17014009	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs17014020	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap]
rs17014026	1.00[ASW][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1986602	0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap]
rs1986603	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2141927	1.00[ASW][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs2405793	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2405929	0.92[ASW][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap]
rs2405931	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2897240	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs2897274	0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap]
rs2897275	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2897277	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2897278	0.82[JPT][hapmap]
rs4488269	0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]
rs4526834	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4636736	1.00[ASW][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7301129	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap]
rs73387865	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7961251	0.92[ASW][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7980126	0.82[CHB][hapmap];0.82[JPT][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	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899395	chr12:86813367-87177972	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899396	chr12:86863041-87276957	ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv899397	chr12:86863041-87636831	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86872400-86878200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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