Variant report

Variant	rs7991916
Chromosome Location	chr13:92450566-92450567
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	chr13:92448522..92450690-chr15:34895323..34897374,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12873046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1332091	0.88[EUR][1000 genomes]
rs168217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs168277	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168278	0.80[EUR][1000 genomes]
rs168279	0.80[EUR][1000 genomes]
rs173141	0.81[CEU][hapmap]
rs1847714	0.88[EUR][1000 genomes]
rs1847715	0.88[EUR][1000 genomes]
rs1847716	0.88[EUR][1000 genomes]
rs1847717	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1854976	0.88[EUR][1000 genomes]
rs1854977	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1854978	0.88[EUR][1000 genomes]
rs1854979	0.88[EUR][1000 genomes]
rs189376	0.87[EUR][1000 genomes]
rs1929922	0.88[EUR][1000 genomes]
rs1929923	0.88[EUR][1000 genomes]
rs1929924	0.88[EUR][1000 genomes]
rs1929925	0.88[EUR][1000 genomes]
rs193208	0.82[CEU][hapmap]
rs2352028	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs2352029	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs2352030	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2938868	0.88[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs2938869	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs2938873	0.88[EUR][1000 genomes]
rs2938874	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs2989990	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989991	0.88[EUR][1000 genomes]
rs2989992	0.86[EUR][1000 genomes]
rs2989993	0.88[EUR][1000 genomes]
rs2989994	0.88[EUR][1000 genomes]
rs2989995	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs2989996	0.88[EUR][1000 genomes]
rs2989997	0.86[EUR][1000 genomes]
rs2989998	0.88[EUR][1000 genomes]
rs2990003	0.88[EUR][1000 genomes]
rs2990004	0.88[CEU][hapmap]
rs2990007	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs3012005	0.88[EUR][1000 genomes]
rs342673	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342696	0.93[CEU][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342702	0.83[EUR][1000 genomes]
rs342704	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342706	0.88[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs342707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs342708	1.00[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs345443	0.88[EUR][1000 genomes]
rs345444	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345449	0.80[EUR][1000 genomes]
rs386885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400118	0.82[CEU][hapmap]
rs457306	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464160	0.88[CEU][hapmap]
rs464167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs528366	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs535973	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs539065	0.80[EUR][1000 genomes]
rs543718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556483	0.85[EUR][1000 genomes]
rs556722	0.80[EUR][1000 genomes]
rs560244	0.80[EUR][1000 genomes]
rs570196	0.80[EUR][1000 genomes]
rs7336461	0.88[EUR][1000 genomes]
rs7995130	0.81[LWK][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap]
rs7995788	0.89[YRI][hapmap]
rs9301755	0.81[AFR][1000 genomes]
rs9301756	0.96[YRI][hapmap]

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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92450200-92454000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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