Variant report

Variant	rs4841525
Chromosome Location	chr8:11249261-11249262
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	chr8:11141582..11144222-chr8:11248890..11251574,2	K562	blood:

Variant related genes	Relation type
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1047950	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10481454	1.00[CHB][hapmap]
rs10503420	1.00[JPT][hapmap]
rs11250131	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11774569	1.00[CHB][hapmap]
rs11784572	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12547100	0.84[ASN][1000 genomes]
rs12550129	0.84[ASN][1000 genomes]
rs12676062	1.00[JPT][hapmap]
rs12676613	1.00[JPT][hapmap]
rs12682349	1.00[ASN][1000 genomes]
rs13260727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13266916	0.84[EUR][1000 genomes]
rs13269118	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274106	0.84[ASN][1000 genomes]
rs1435277	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1435282	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1560971	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1594968	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17153118	1.00[JPT][hapmap]
rs1865521	1.00[ASN][1000 genomes]
rs2043508	0.85[ASN][1000 genomes]
rs2245232	1.00[CHB][hapmap]
rs2246606	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2249804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2250028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2263511	1.00[ASN][1000 genomes]
rs2263512	1.00[ASN][1000 genomes]
rs2409756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2437152	0.84[ASN][1000 genomes]
rs2572379	0.84[ASN][1000 genomes]
rs2572380	0.84[ASN][1000 genomes]
rs2572382	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572385	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2572394	0.84[ASN][1000 genomes]
rs2572395	0.84[ASN][1000 genomes]
rs2572397	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572398	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572399	0.84[ASN][1000 genomes]
rs2572400	0.84[ASN][1000 genomes]
rs2572440	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2572450	0.85[ASN][1000 genomes]
rs2736285	0.85[ASN][1000 genomes]
rs2736288	0.85[ASN][1000 genomes]
rs2736290	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2736292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs2736293	0.84[ASN][1000 genomes]
rs2736294	0.84[ASN][1000 genomes]
rs2736295	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2736296	0.84[ASN][1000 genomes]
rs2736297	0.84[ASN][1000 genomes]
rs2736298	0.84[ASN][1000 genomes]
rs2736300	0.84[ASN][1000 genomes]
rs2736303	0.84[ASN][1000 genomes]
rs2736304	0.84[ASN][1000 genomes]
rs2736309	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2736311	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2898272	1.00[ASN][1000 genomes]
rs35009431	0.84[ASN][1000 genomes]
rs4448232	1.00[ASN][1000 genomes]
rs4631424	0.84[ASN][1000 genomes]
rs4841524	0.84[ASN][1000 genomes]
rs56177149	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57629785	0.84[ASN][1000 genomes]
rs6601584	0.84[ASN][1000 genomes]
rs6601585	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6980481	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7821302	0.84[ASN][1000 genomes]
rs7821459	0.84[ASN][1000 genomes]
rs7828263	0.84[ASN][1000 genomes]
rs7832747	1.00[JPT][hapmap]
rs7834572	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4841525	TDH	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11246600-11250200	Weak transcription	Gastric	stomach
2	chr8:11248000-11250200	Weak transcription	Pancreas	Pancrea
3	chr8:11248600-11249400	Bivalent Enhancer	NHEK	skin
4	chr8:11248600-11250200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:11249000-11249400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:11249200-11249400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11249200-11250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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