Variant report

Variant	rs4646618
Chromosome Location	chr15:58258424-58258425
allele	C/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	chr15:58253084..58256788-chr15:58257302..58261139,5	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10518951	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1078777	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1125360	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12591551	0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12591715	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12591835	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12592533	0.82[AMR][1000 genomes]
rs12592773	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12592810	0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12593050	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12593414	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12594689	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12595264	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12900968	1.00[AFR][1000 genomes]
rs12913362	1.00[AFR][1000 genomes]
rs1372367	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16939707	0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16939727	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs16939733	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs16953355	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16977858	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16977861	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16977865	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16977883	0.81[CHB][hapmap];0.87[ASN][1000 genomes]
rs1837850	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1874157	0.91[CHB][hapmap];0.90[ASN][1000 genomes]
rs1874158	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs34134903	1.00[AFR][1000 genomes]
rs34165083	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34570545	1.00[AFR][1000 genomes]
rs35016264	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35056852	0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35385267	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35912910	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3825778	0.90[CHB][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646561	0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4646565	0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4646574	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4646578	0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4646583	0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646587	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4646591	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646601	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646608	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4646623	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4646632	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646637	0.91[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4646643	0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4646644	0.90[CHB][hapmap]
rs55723752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55757800	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55866609	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56066922	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56141372	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56183601	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56280454	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56404147	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7161823	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7178015	0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74017072	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74017096	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7495284	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8041300	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58248800-58262400	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:58249000-58259200	Strong transcription	K562	blood
3	chr15:58253800-58271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:58253800-58284800	Weak transcription	Ovary	ovary
5	chr15:58254400-58260000	Weak transcription	Left Ventricle	heart
6	chr15:58254400-58260000	Weak transcription	Right Atrium	heart
7	chr15:58255400-58258600	Weak transcription	Placenta	Placenta
8	chr15:58258000-58260000	Weak transcription	Fetal Kidney	kidney
9	chr15:58258000-58272200	Weak transcription	Right Ventricle	heart
10	chr15:58258200-58259000	Enhancers	Fetal Lung	lung

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