Variant report

Variant	rs4646623
Chromosome Location	chr15:58257123-58257124
allele	A/C
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

Variant related genes	Relation type
ALDH1A2	TF binding region

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10518961	0.82[ASN][1000 genomes]
rs1061278	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1063666	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10851632	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11071363	0.83[ASN][1000 genomes]
rs11071364	0.83[ASN][1000 genomes]
rs11631127	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11636979	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11857465	0.85[ASN][1000 genomes]
rs12148281	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12324197	0.91[ASN][1000 genomes]
rs12591551	1.00[CHB][hapmap]
rs12592810	1.00[CHB][hapmap]
rs12594082	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595180	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12595410	0.88[ASN][1000 genomes]
rs12898976	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12903724	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12905608	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12907125	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12909423	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12909865	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12909979	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12911450	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12912093	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12914388	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12914414	0.84[ASN][1000 genomes]
rs12914455	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12914603	0.81[ASN][1000 genomes]
rs12915508	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12915821	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12915989	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12917536	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1372369	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1441815	0.89[ASN][1000 genomes]
rs1441819	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1441829	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16939707	1.00[CHB][hapmap]
rs16939727	1.00[CHB][hapmap]
rs16939733	1.00[CHB][hapmap]
rs16977865	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16977883	1.00[CHB][hapmap]
rs17820990	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1812889	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1822205	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1837851	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874157	1.00[CHB][hapmap]
rs1874158	1.00[CHB][hapmap]
rs1899355	0.85[ASN][1000 genomes]
rs1994926	0.82[ASN][1000 genomes]
rs1994927	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2044071	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2067062	0.84[ASN][1000 genomes]
rs2119859	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2197092	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2414527	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2414529	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2414530	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2642630	0.87[ASN][1000 genomes]
rs2642632	0.84[ASN][1000 genomes]
rs2704196	0.84[ASN][1000 genomes]
rs2704197	0.82[ASN][1000 genomes]
rs2899611	0.86[ASN][1000 genomes]
rs2899612	0.82[ASN][1000 genomes]
rs2899613	0.81[ASN][1000 genomes]
rs3204690	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33960206	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34226780	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34556514	0.83[ASN][1000 genomes]
rs34676542	0.84[ASN][1000 genomes]
rs34958088	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35056852	1.00[CHB][hapmap]
rs3742959	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3742960	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742961	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3784256	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784257	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784259	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784260	0.84[AFR][1000 genomes]
rs3784263	0.95[AFR][1000 genomes]
rs3784264	1.00[ASN][1000 genomes]
rs3825778	1.00[CHB][hapmap]
rs4144005	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4238327	0.82[ASN][1000 genomes]
rs4553566	0.82[ASN][1000 genomes]
rs4646554	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4646555	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646559	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646560	0.88[EUR][1000 genomes]
rs4646561	1.00[CHB][hapmap]
rs4646564	0.89[EUR][1000 genomes]
rs4646565	1.00[CHB][hapmap]
rs4646566	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4646570	0.82[ASN][1000 genomes]
rs4646578	0.86[CHB][hapmap]
rs4646579	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4646580	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4646581	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4646582	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646583	1.00[CHB][hapmap]
rs4646584	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4646588	0.85[ASN][1000 genomes]
rs4646589	0.87[ASN][1000 genomes]
rs4646590	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646591	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4646592	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646594	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646595	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646596	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646597	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646598	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4646600	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646602	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646603	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646604	1.00[YRI][hapmap]
rs4646605	0.86[ASN][1000 genomes]
rs4646606	0.85[ASN][1000 genomes]
rs4646607	0.85[ASN][1000 genomes]
rs4646609	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646618	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4646620	0.97[AFR][1000 genomes]
rs4646625	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646626	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646628	0.87[AFR][1000 genomes]
rs4646632	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4646635	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4646637	1.00[CHB][hapmap]
rs4646642	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4646643	1.00[CHB][hapmap]
rs4646644	1.00[CHB][hapmap]
rs4646645	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4775006	0.80[AMR][1000 genomes]
rs57975858	0.91[ASN][1000 genomes]
rs6493977	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6493978	0.86[ASN][1000 genomes]
rs6493979	0.83[ASN][1000 genomes]
rs6493980	0.88[EUR][1000 genomes]
rs6493981	0.89[EUR][1000 genomes]
rs66971399	0.86[ASN][1000 genomes]
rs7171261	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7171714	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7178015	1.00[CHB][hapmap]
rs7178598	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7180059	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8023769	0.82[ASN][1000 genomes]
rs8026952	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8027188	0.82[ASN][1000 genomes]
rs8027964	0.82[ASN][1000 genomes]
rs8032572	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8041644	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9635346	0.86[ASN][1000 genomes]
rs9635350	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

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	chr15:58249000-58259200	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	chr15:58255400-58258200	Weak transcription	Fetal Lung	lung
8	chr15:58255400-58258600	Weak transcription	Placenta	Placenta
9	chr15:58256400-58258000	Strong transcription	Fetal Kidney	kidney

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