Variant report

Variant	rs1854972
Chromosome Location	chr13:92457066-92457067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:92013065..92015045-chr13:92455620..92457213,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1394888	0.91[CEU][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs1505565	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs168217	0.83[MKK][hapmap]
rs1827755	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs1831563	0.90[EUR][1000 genomes]
rs1831564	0.91[CEU][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.90[EUR][1000 genomes]
rs1831565	0.90[EUR][1000 genomes]
rs1831566	0.89[EUR][1000 genomes]
rs1854971	0.90[EUR][1000 genomes]
rs1854973	0.90[EUR][1000 genomes]
rs1972350	0.85[CHD][hapmap];0.83[GIH][hapmap]
rs1988500	0.91[CEU][hapmap];0.84[TSI][hapmap];0.80[YRI][hapmap];0.89[EUR][1000 genomes]
rs2352028	0.80[YRI][hapmap]
rs2352030	0.89[YRI][hapmap]
rs2352190	0.85[CHD][hapmap]
rs2352202	0.91[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs2352203	0.90[EUR][1000 genomes]
rs2938868	0.80[YRI][hapmap]
rs2938874	0.80[YRI][hapmap]
rs2990004	0.80[YRI][hapmap]
rs342673	0.91[MKK][hapmap];0.82[YRI][hapmap]
rs342708	0.85[MKK][hapmap]
rs345444	0.80[LWK][hapmap];0.90[YRI][hapmap]
rs345445	0.89[YRI][hapmap]
rs386885	0.90[YRI][hapmap]
rs4630398	0.94[GIH][hapmap];0.88[JPT][hapmap]
rs4773651	0.85[CHD][hapmap];0.83[GIH][hapmap]
rs4773652	0.85[CHD][hapmap];0.83[GIH][hapmap]
rs535973	0.80[YRI][hapmap]
rs543718	0.89[YRI][hapmap]
rs7981572	0.87[EUR][1000 genomes]
rs7990703	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs7995130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7995788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9301755	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9301756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9515973	0.87[EUR][1000 genomes]
rs9515975	0.91[CEU][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.90[EUR][1000 genomes]
rs9523438	1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs9523439	1.00[CHD][hapmap];0.91[GIH][hapmap]
rs9523441	1.00[CHD][hapmap];0.87[MEX][hapmap]
rs9556130	0.85[CHD][hapmap]
rs9560863	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2753383	chr13:92226599-92462699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv456065	chr13:92383193-92507887	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv562719	chr13:92383193-92507887	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv948820	chr13:92408505-92519053	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv524271	chr13:92419769-92501664	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv562720	chr13:92419769-92501664	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1036226	chr13:92421721-92501284	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1053048	chr13:92421721-92501558	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1053597	chr13:92421721-92502205	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv3378326	chr13:92445514-92816367	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1800684	chr13:92450566-92460111	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92456200-92458000	Enhancers	Fetal Heart	heart
2	chr13:92456400-92457400	Enhancers	Rectal Smooth Muscle	rectum
3	chr13:92456600-92458000	Enhancers	Fetal Lung	lung

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