Variant report

Variant	rs1990019
Chromosome Location	chr7:16345799-16345800
allele	G/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	chr7:16345758-16346259	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16338494..16340742-chr7:16343830..16346096,2	K562	blood:
2	chr7:16333754..16335349-chr7:16345715..16348508,2	K562	blood:

Variant related genes	Relation type
ISPD	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10231565	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10275672	0.87[EUR][1000 genomes]
rs10277820	0.87[EUR][1000 genomes]
rs12673171	0.92[EUR][1000 genomes]
rs12699784	0.92[EUR][1000 genomes]
rs17169411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859421	0.81[EUR][1000 genomes]
rs2107590	0.90[EUR][1000 genomes]
rs2158487	0.92[EUR][1000 genomes]
rs2189736	0.88[EUR][1000 genomes]
rs2214625	0.92[EUR][1000 genomes]
rs2389594	0.92[EUR][1000 genomes]
rs2892804	0.87[EUR][1000 genomes]
rs4236287	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4565368	0.92[EUR][1000 genomes]
rs4721488	0.92[EUR][1000 genomes]
rs61666208	0.83[EUR][1000 genomes]
rs62441880	0.90[EUR][1000 genomes]
rs62441884	0.92[EUR][1000 genomes]
rs6461234	0.92[EUR][1000 genomes]
rs6948602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975353	0.92[EUR][1000 genomes]
rs6979436	0.87[EUR][1000 genomes]
rs7776758	0.90[EUR][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:4 , 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	chr7:16343800-16347600	Strong transcription	K562	blood
4	chr7:16345600-16346000	ZNF genes & repeats	Ovary	ovary

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