Variant report

Variant	rs12596394
Chromosome Location	chr16:30807244-30807245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30796949..30800818-chr16:30804737..30809387,9	MCF-7	breast:
2	chr16:30802488..30809152-chr16:30815152..30818622,8	MCF-7	breast:
3	chr16:30805114..30807676-chr16:30810099..30811634,2	MCF-7	breast:
4	chr16:30786995..30791215-chr16:30806249..30811832,6	K562	blood:
5	chr16:30797126..30800822-chr16:30807037..30811252,6	MCF-7	breast:
6	chr16:30803049..30805993-chr16:30806956..30809865,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262026	Chromatin interaction
ENSG00000102870	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10782000	1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11648654	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12598056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12931844	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12933849	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550477	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053426	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099754	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099755	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	1.00[AMR][1000 genomes]
rs2919432	1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972815	1.00[AMR][1000 genomes]
rs4268760	0.86[AFR][1000 genomes]
rs4617878	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889488	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	1.00[AMR][1000 genomes]
rs4889504	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889505	1.00[AMR][1000 genomes]
rs4889507	0.86[AFR][1000 genomes]
rs4889508	1.00[AMR][1000 genomes]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	0.80[AFR][1000 genomes];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]
rs71380412	0.89[AFR][1000 genomes]
rs7185136	1.00[AMR][1000 genomes]
rs7188077	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193412	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195612	1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045293	0.83[AFR][1000 genomes]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	0.89[AFR][1000 genomes];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]
rs8056105	0.95[AFR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926855	0.83[AFR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	1.00[AMR][1000 genomes]
rs9941300	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
11	nsv905732	chr16:30788182-30837210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
13	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
14	nsv1060384	chr16:30802415-30878838	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv1059633	chr16:30803099-30867916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30800200-30816200	Weak transcription	Fetal Intestine Small	intestine
2	chr16:30806400-30808200	Weak transcription	HepG2	liver

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