Variant report

Variant	rs8031133
Chromosome Location	chr15:58259939-58259940
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:58255933-58266423	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58258528..58260407-chr15:58261970..58264281,2	K562	blood:
2	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10851630	0.93[ASN][1000 genomes]
rs10851631	0.93[ASN][1000 genomes]
rs10851633	0.84[ASN][1000 genomes]
rs11071356	0.94[ASN][1000 genomes]
rs11071366	0.82[ASN][1000 genomes]
rs11630835	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11852540	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11855259	0.95[ASN][1000 genomes]
rs11857461	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12148093	0.81[AFR][1000 genomes]
rs12148907	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12901462	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12903474	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12903551	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12903792	0.88[ASN][1000 genomes]
rs12907038	0.93[ASN][1000 genomes]
rs12908953	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12910113	0.93[ASN][1000 genomes]
rs12910752	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12911071	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12914590	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12915693	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12915901	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1372368	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3204689	0.92[ASN][1000 genomes]
rs34871384	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35246600	0.82[ASN][1000 genomes]
rs35511675	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3784260	0.95[ASN][1000 genomes]
rs3784262	0.85[ASN][1000 genomes]
rs3784263	0.87[ASN][1000 genomes]
rs4369598	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4646563	0.83[AFR][1000 genomes]
rs4646568	0.82[ASN][1000 genomes]
rs4646571	0.81[ASN][1000 genomes]
rs4646572	0.82[ASN][1000 genomes]
rs4646586	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4646593	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4646611	0.93[ASN][1000 genomes]
rs4646612	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4646615	0.84[ASN][1000 genomes]
rs4646616	0.88[ASN][1000 genomes]
rs4646619	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4646620	0.87[ASN][1000 genomes]
rs4646622	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4646627	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4646628	0.95[ASN][1000 genomes]
rs4646629	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4646636	0.95[ASN][1000 genomes]
rs4646638	0.95[ASN][1000 genomes]
rs4646640	0.92[ASN][1000 genomes]
rs7164408	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7165247	0.85[ASN][1000 genomes]
rs7170896	0.84[ASN][1000 genomes]
rs7178497	0.93[ASN][1000 genomes]
rs7495968	0.93[ASN][1000 genomes]
rs8032107	0.82[ASN][1000 genomes]
rs9325	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833023	chr15:58161839-58340174	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv569593	chr15:58201698-58308650	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv904256	chr15:58253269-58274229	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv904257	chr15:58253894-58281035	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904258	chr15:58255305-58281035	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv904259	chr15:58256296-58274229	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv904260	chr15:58257123-58276747	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv904261	chr15:58258424-58347260	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58248800-58262400	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:58253800-58271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:58253800-58284800	Weak transcription	Ovary	ovary
4	chr15:58254400-58260000	Weak transcription	Left Ventricle	heart
5	chr15:58254400-58260000	Weak transcription	Right Atrium	heart
6	chr15:58258000-58260000	Weak transcription	Fetal Kidney	kidney
7	chr15:58258000-58272200	Weak transcription	Right Ventricle	heart
8	chr15:58259000-58264600	Weak transcription	Fetal Lung	lung
9	chr15:58259200-58261200	Weak transcription	K562	blood

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