Variant report

Variant	rs72965241
Chromosome Location	chr6:74639557-74639558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12190633	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12191694	1.00[AFR][1000 genomes]
rs12192587	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12196321	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12208415	1.00[AFR][1000 genomes]
rs12211362	1.00[AFR][1000 genomes]
rs12211795	1.00[AFR][1000 genomes]
rs12212963	1.00[AFR][1000 genomes]
rs12213134	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12213921	1.00[AFR][1000 genomes]
rs55646316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55674204	1.00[ASN][1000 genomes]
rs72949471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72952354	1.00[AFR][1000 genomes]
rs72953230	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72953279	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72955120	1.00[AFR][1000 genomes]
rs72955121	1.00[AFR][1000 genomes]
rs72955125	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72955129	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72955133	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72955136	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72955140	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72961296	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv526236	chr6:74563545-74662900	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv34305	chr6:74571797-74675280	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv5351	chr6:74590127-74643177	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1030389	chr6:74606701-74811706	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv14830	chr6:74610209-74646506	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3394316	chr6:74630005-74935625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74638800-74639800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:74638800-74639800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:74638800-74640000	Enhancers	HMEC	breast
4	chr6:74639000-74639800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:74639000-74639800	Enhancers	NHEK	skin
6	chr6:74639000-74640000	Enhancers	Hela-S3	cervix
7	chr6:74639200-74639600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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