Variant report

Variant	rs2197092
Chromosome Location	chr15:58247781-58247782
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	CTCF	chr15:58247772-58247849	Fibrobl	skin:	n/a	n/a
2	POLR2A	chr15:58242506-58254000	K562	blood:	n/a	n/a
3	POLR2A	chr15:58247726-58248056	K562	blood:	n/a	n/a
4	POLR2A	chr15:58247704-58247942	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58245255..58247341-chr15:58247558..58249142,2	K562	blood:
2	chr15:58245255..58246964-chr15:58247558..58250422,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10518961	0.95[CHB][hapmap]
rs1061278	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1063666	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11071364	0.95[CHB][hapmap]
rs11071367	0.95[CHB][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap]
rs11631127	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11636979	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12148281	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12324197	0.83[ASN][1000 genomes]
rs12594082	0.83[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12595180	0.92[CEU][hapmap];0.95[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12595410	0.80[ASN][1000 genomes]
rs12898976	0.92[CEU][hapmap];0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12903724	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12905608	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12907038	0.84[CEU][hapmap]
rs12907125	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12909423	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12909865	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12909979	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12912093	0.92[CEU][hapmap];0.95[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12914388	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12914455	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12914603	0.95[CHB][hapmap]
rs12915508	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12915821	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12915989	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12917536	0.89[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes]
rs1372369	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1441815	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.81[ASN][1000 genomes]
rs1441819	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1441829	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs17820966	0.95[CHB][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap]
rs17820990	0.89[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs1812889	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1822205	0.83[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1837851	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1899355	0.95[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap]
rs1994926	0.95[CHB][hapmap];0.88[GIH][hapmap]
rs1994927	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs2044071	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2067062	0.95[CHB][hapmap]
rs2119859	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414527	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414529	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2414530	0.89[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs2642630	0.95[CHB][hapmap]
rs2642632	0.95[CHB][hapmap]
rs2704218	0.82[GIH][hapmap]
rs2704225	0.95[CHB][hapmap]
rs2899611	0.95[CHB][hapmap]
rs2899613	0.95[CHB][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap]
rs3204690	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33960206	0.87[EUR][1000 genomes]
rs34226780	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3742959	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784256	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784257	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3784259	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3784263	0.85[LWK][hapmap]
rs3784264	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4144005	0.95[CHB][hapmap]
rs4238327	0.95[CHB][hapmap];0.88[GIH][hapmap]
rs4646554	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs4646555	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs4646557	0.94[CHB][hapmap]
rs4646559	0.87[CEU][hapmap];0.94[CHB][hapmap];0.85[EUR][1000 genomes]
rs4646560	0.92[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs4646564	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs4646566	0.85[EUR][1000 genomes]
rs4646579	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs4646580	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs4646581	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646582	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[EUR][1000 genomes]
rs4646584	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4646588	0.95[CHB][hapmap]
rs4646589	0.95[CHB][hapmap]
rs4646590	0.83[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4646592	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4646594	0.83[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4646595	0.83[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4646596	0.85[EUR][1000 genomes]
rs4646597	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4646598	0.86[EUR][1000 genomes]
rs4646600	0.89[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes]
rs4646602	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4646603	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4646605	0.95[CHB][hapmap]
rs4646606	0.95[CHB][hapmap]
rs4646607	0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap]
rs4646609	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4646623	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4646625	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4646626	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4646635	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646642	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646645	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775006	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57975858	0.83[ASN][1000 genomes]
rs6493977	0.95[CHB][hapmap];0.85[GIH][hapmap]
rs6493979	0.95[CHB][hapmap];0.88[GIH][hapmap]
rs6493980	0.84[EUR][1000 genomes]
rs6493981	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs7171261	0.89[CEU][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs7171714	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7178598	0.83[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7180059	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8026952	0.89[CEU][hapmap];0.90[CHB][hapmap];0.87[EUR][1000 genomes]
rs8027188	0.95[CHB][hapmap]
rs8032572	0.89[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs8041644	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2197092	RNF111	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58240200-58252800	Weak transcription	Fetal Lung	lung
2	chr15:58243000-58248400	Weak transcription	Pancreas	Pancrea
3	chr15:58243800-58253800	Weak transcription	Right Atrium	heart
4	chr15:58244600-58249000	Weak transcription	K562	blood
5	chr15:58246000-58248000	Enhancers	Ovary	ovary
6	chr15:58247000-58248600	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:58247000-58253600	Weak transcription	Fetal Heart	heart
8	chr15:58247400-58254000	Strong transcription	Fetal Kidney	kidney
9	chr15:58247600-58250400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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