Variant report

Variant	rs57225118
Chromosome Location	chr16:30698121-30698122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30697643..30699472-chr16:30703820..30706314,2	K562	blood:
2	chr16:30697796..30701437-chr16:30709412..30712126,4	MCF-7	breast:
3	chr16:30695927..30698743-chr16:31468091..31470252,2	K562	blood:
4	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
5	chr16:30696465..30699786-chr16:30701114..30706314,5	K562	blood:
6	chr16:30676714..30679302-chr16:30696511..30698322,2	K562	blood:

Variant related genes	Relation type
ENSG00000156860	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000080603	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10782000	1.00[AMR][1000 genomes]
rs11150594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11648654	1.00[AMR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	1.00[AMR][1000 genomes]
rs1550477	1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	1.00[AMR][1000 genomes]
rs2099755	1.00[AMR][1000 genomes]
rs2919430	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972807	0.94[AFR][1000 genomes]
rs2972808	0.84[AFR][1000 genomes]
rs2972809	0.84[AFR][1000 genomes]
rs2972815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4617878	1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889501	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889503	1.00[AMR][1000 genomes]
rs4889504	1.00[AMR][1000 genomes]
rs4889505	1.00[AMR][1000 genomes]
rs4889508	1.00[AMR][1000 genomes]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57643871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7185136	1.00[AMR][1000 genomes]
rs7188077	1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[AMR][1000 genomes]
rs7195612	1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	1.00[AMR][1000 genomes]
rs893927	1.00[AMR][1000 genomes]
rs9921630	1.00[AMR][1000 genomes]
rs9934046	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941201	1.00[AMR][1000 genomes]
rs9941300	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30682600-30705200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:30690000-30703000	Weak transcription	Fetal Intestine Small	intestine
3	chr16:30698000-30698400	Enhancers	HepG2	liver

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