Variant report

Variant	rs7978982
Chromosome Location	chr12:66915178-66915179
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11610989	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11611434	1.00[ASN][1000 genomes]
rs11612762	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11613182	1.00[ASN][1000 genomes]
rs11613274	1.00[ASN][1000 genomes]
rs11614590	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17102626	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17181148	0.90[ASN][1000 genomes]
rs17181267	1.00[ASN][1000 genomes]
rs17779025	1.00[ASN][1000 genomes]
rs56196817	0.95[ASN][1000 genomes]
rs56201070	0.95[ASN][1000 genomes]
rs59554221	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61159832	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61925945	1.00[ASN][1000 genomes]
rs61925951	1.00[ASN][1000 genomes]
rs61925952	1.00[ASN][1000 genomes]
rs61925953	1.00[ASN][1000 genomes]
rs61925954	1.00[ASN][1000 genomes]
rs61926060	0.95[ASN][1000 genomes]
rs61928462	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61928464	0.95[ASN][1000 genomes]
rs61928465	0.95[ASN][1000 genomes]
rs61928466	0.95[ASN][1000 genomes]
rs61928467	0.95[ASN][1000 genomes]
rs7297199	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321276	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7958769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7971370	0.95[ASN][1000 genomes]
rs7974552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2757508	chr12:66905405-66980180	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2759906	chr12:66905405-66980180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:66910200-66932800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:66911400-66938200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:66914200-66915200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr12:66914200-66915400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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