Variant report

Variant	rs73546669
Chromosome Location	chr19:40296675-40296676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40294943..40296744-chr19:40337305..40340033,2	MCF-7	breast:
2	chr19:40295840..40298272-chr19:40322727..40325020,2	MCF-7	breast:
3	chr19:40296262..40298626-chr19:40313380..40316915,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105204	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs56903549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57358879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57647975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57898836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58457062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59182107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61293883	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61520181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62106865	0.86[AFR][1000 genomes]
rs6508908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6508909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7250600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7251711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7258204	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73546653	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546697	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548515	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73548523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8102268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8110565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1061361	chr19:40131820-40310996	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv579511	chr19:40132825-40310497	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1062394	chr19:40133229-40310186	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv544004	chr19:40133229-40310186	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1059691	chr19:40168862-40306373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv544005	chr19:40168862-40306373	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3332670	chr19:40181720-40297955	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 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	chr19:40294000-40303200	Weak transcription	Psoas Muscle	Psoas
2	chr19:40296200-40314200	Weak transcription	Right Ventricle	heart
3	chr19:40296600-40303000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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