Variant report

Variant	rs7300765
Chromosome Location	chr12:60519886-60519887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11173317	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12296463	1.00[AMR][1000 genomes]
rs12297378	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299963	0.93[AMR][1000 genomes]
rs12303842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12303899	0.87[AMR][1000 genomes]
rs12306142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12307563	1.00[AMR][1000 genomes]
rs12308835	0.93[AMR][1000 genomes]
rs12309540	0.93[AMR][1000 genomes]
rs12313647	0.87[AFR][1000 genomes]
rs12316539	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12317243	0.93[AMR][1000 genomes]
rs12321091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321390	0.93[AMR][1000 genomes]
rs12322592	0.93[AMR][1000 genomes]
rs1493326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17123427	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1948852	0.87[AMR][1000 genomes]
rs57945859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61357417	0.93[AMR][1000 genomes]
rs7133571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7309556	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310877	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364859	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73370791	0.87[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	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1812349	chr12:60516593-60524969	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	esv1825056	chr12:60518417-60524969	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv1839637	chr12:60518599-60524927	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	esv1839958	chr12:60518599-60524927	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	esv1847663	chr12:60518599-60524927	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
9	nsv511495	chr12:60518599-60541932	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv559104	chr12:60518842-60523366	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv559105	chr12:60518842-60523699	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	nsv559106	chr12:60518842-60524514	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv559107	chr12:60518842-60540108	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv559108	chr12:60518842-60548334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3480964	chr12:60519885-60526983	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60517800-60523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60518800-60520200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:60519000-60520600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr12:60519400-60520400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr12:60519800-60520400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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