Variant report

Variant	rs12593594
Chromosome Location	chr15:58640146-58640147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12591174	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591717	0.93[ASN][1000 genomes]
rs12594877	0.93[ASN][1000 genomes]
rs12595797	0.93[ASN][1000 genomes]
rs261318	0.86[EUR][1000 genomes]
rs261320	0.86[EUR][1000 genomes]
rs261327	0.93[ASN][1000 genomes]
rs261328	0.93[ASN][1000 genomes]
rs261330	0.93[ASN][1000 genomes]
rs261331	0.88[ASN][1000 genomes]
rs28420113	0.94[ASN][1000 genomes]
rs28420473	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28829415	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56964961	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57309903	0.97[ASN][1000 genomes]
rs57332180	0.97[ASN][1000 genomes]
rs57904600	0.87[ASN][1000 genomes]
rs60890108	0.87[ASN][1000 genomes]
rs7176512	0.97[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	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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 target site	50 gene(s)	inside rSNPs	diseases
3	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1041779	chr15:58634768-58662280	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58625000-58643200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:58634400-58640400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr15:58636800-58640600	Weak transcription	Fetal Kidney	kidney
4	chr15:58637600-58642400	Weak transcription	K562	blood
5	chr15:58638400-58640400	Weak transcription	Fetal Thymus	thymus
6	chr15:58638600-58640400	Weak transcription	HSMMtube	muscle
7	chr15:58638800-58640400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:58638800-58640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:58638800-58640400	Weak transcription	Placenta	Placenta
10	chr15:58638800-58640400	Weak transcription	Hela-S3	cervix
11	chr15:58638800-58640400	Weak transcription	HepG2	liver
12	chr15:58638800-58640400	Weak transcription	HSMM	muscle
13	chr15:58638800-58641800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:58638800-58642200	Weak transcription	A549	lung
15	chr15:58638800-58647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:58639000-58640400	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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