Variant report

Variant	rs2817248
Chromosome Location	chr6:24464573-24464574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12213545	1.00[ASW][hapmap]
rs1569579	0.81[TSI][hapmap]
rs2010190	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2295649	0.82[CHB][hapmap]
rs2744551	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2744554	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744555	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2744572	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744582	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2744588	0.80[ASN][1000 genomes]
rs2744594	0.81[MEX][hapmap]
rs2744597	0.86[MEX][hapmap]
rs2760137	0.80[ASN][1000 genomes]
rs2760138	0.90[TSI][hapmap]
rs2760146	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2760153	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2793431	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2793444	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2793445	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2817204	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2817215	0.80[EUR][1000 genomes]
rs2817226	0.80[ASN][1000 genomes]
rs2817227	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2817231	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2817247	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs807519	0.81[MEX][hapmap]
rs807527	0.81[MEX][hapmap]
rs941437	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv2763542	chr6:24445131-24520637	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv519552	chr6:24451256-24524704	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24427800-24467000	Weak transcription	Brain Germinal Matrix	brain
2	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:24429400-24483800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:24438400-24483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:24438800-24469200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:24447200-24470200	Weak transcription	Aorta	Aorta
7	chr6:24447400-24490400	Weak transcription	Brain Anterior Caudate	brain
8	chr6:24448200-24466200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:24448800-24488000	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:24452600-24466400	Weak transcription	Dnd41	blood
11	chr6:24453200-24471000	Strong transcription	Liver	Liver
12	chr6:24458600-24489000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:24458800-24492800	Weak transcription	Thymus	Thymus
14	chr6:24458800-24494000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:24464000-24465200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:24464400-24464600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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