Variant report

Variant	rs1517308
Chromosome Location	chr11:84971275-84971276
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	chr11:84965218..84967879-chr11:84970390..84972162,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10501590	0.94[ASW][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap]
rs10792810	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs1400630	0.84[ASW][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap]
rs1517310	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1517317	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs1914375	0.82[ASW][hapmap];0.87[JPT][hapmap]
rs2000962	0.94[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap]
rs2203702	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap]
rs2449987	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs349077	0.83[JPT][hapmap]
rs471786	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs472630	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944512	0.94[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap]
rs530323	0.89[ASW][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs552017	0.84[ASW][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs552373	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs563788	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs580188	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs601857	1.00[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap]
rs660451	0.83[CHB][hapmap]
rs789600	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7935720	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs938727	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs9734338	0.82[CHB][hapmap];0.87[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	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv898043	chr11:84895033-85148689	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv898044	chr11:84895033-85220773	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1517308	TMEM126B	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84963800-84972800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:84964800-84971800	Weak transcription	HSMMtube	muscle
3	chr11:84965200-84974400	Weak transcription	Left Ventricle	heart
4	chr11:84965200-84977000	Weak transcription	Aorta	Aorta
5	chr11:84967800-85019400	Weak transcription	Ovary	ovary
6	chr11:84969400-84977200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:84971200-84974200	Weak transcription	Fetal Muscle Trunk	muscle

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