Variant report

Variant	rs4721488
Chromosome Location	chr7:16342290-16342291
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	chr7:16342124-16342408	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16332474..16335082-chr7:16341108..16343730,3	K562	blood:
2	chr7:16335290..16339651-chr7:16341311..16343633,4	K562	blood:

Variant related genes	Relation type
ISPD	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10231565	0.83[EUR][1000 genomes]
rs10261188	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10275672	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10277820	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10486789	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12155478	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537719	0.83[ASN][1000 genomes]
rs12667765	0.94[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12673171	0.83[EUR][1000 genomes]
rs12699779	0.86[ASN][1000 genomes]
rs12699780	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12699781	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12699782	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12699783	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12699784	0.83[EUR][1000 genomes]
rs1295137	1.00[YRI][hapmap]
rs1295146	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1295147	1.00[YRI][hapmap]
rs1295172	1.00[YRI][hapmap]
rs13226547	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13232066	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13233751	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13237371	0.82[EUR][1000 genomes]
rs17169411	0.92[EUR][1000 genomes]
rs1859421	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1990019	0.92[EUR][1000 genomes]
rs2107590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2158487	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2189732	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2189736	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2214625	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892804	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4236287	0.83[EUR][1000 genomes]
rs4349896	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4529354	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4565368	0.83[EUR][1000 genomes]
rs4602788	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4721486	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61666208	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62441880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62441884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6461234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948602	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs6956615	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6968139	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6973279	0.82[ASN][1000 genomes]
rs6975353	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6977050	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6979436	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980295	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7459327	0.83[ASN][1000 genomes]
rs7776758	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16313600-16348200	Weak transcription	Gastric	stomach
2	chr7:16333400-16349000	Weak transcription	Psoas Muscle	Psoas
3	chr7:16335400-16343800	Weak transcription	K562	blood
4	chr7:16339800-16342400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:16342200-16342400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:16342200-16342400	Enhancers	Fetal Lung	lung

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