Variant report

Variant	rs16972493
Chromosome Location	chr15:42325235-42325236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42318244..42322022-chr15:42323761..42326594,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11632564	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11632634	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16972456	0.86[ASN][1000 genomes]
rs16972467	0.86[ASN][1000 genomes]
rs16972470	0.86[ASN][1000 genomes]
rs16972496	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16972499	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16972507	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2412654	1.00[ASN][1000 genomes]
rs2412655	1.00[ASN][1000 genomes]
rs28422161	0.89[ASN][1000 genomes]
rs28460654	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28526333	0.90[ASN][1000 genomes]
rs55845751	0.86[ASN][1000 genomes]
rs55971911	0.86[ASN][1000 genomes]
rs66843757	0.85[AFR][1000 genomes]
rs7175498	0.86[ASN][1000 genomes]
rs7176399	0.86[ASN][1000 genomes]
rs7179219	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7182355	0.86[ASN][1000 genomes]
rs73397815	0.86[ASN][1000 genomes]
rs73397843	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7496336	0.89[ASN][1000 genomes]
rs8029818	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv569235	chr15:42304628-42326259	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv904130	chr15:42323591-42336018	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42320400-42327200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:42322000-42327200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:42323800-42325400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr15:42324000-42326200	Enhancers	Psoas Muscle	Psoas
5	chr15:42324200-42326600	Weak transcription	NHEK	skin
6	chr15:42324200-42327800	Enhancers	Esophagus	oesophagus
7	chr15:42324600-42325400	Enhancers	Right Ventricle	heart
8	chr15:42324600-42325600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:42324600-42325800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:42324800-42325400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:42324800-42325400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:42324800-42325400	Flanking Active TSS	GM12878-XiMat	blood
13	chr15:42325000-42325400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr15:42325000-42325800	Weak transcription	HMEC	breast
15	chr15:42325200-42325400	Enhancers	Duodenum Mucosa	Duodenum
16	chr15:42325200-42325600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:42325200-42325800	Weak transcription	Lung	lung
18	chr15:42325200-42326000	Enhancers	Colonic Mucosa	Colon
19	chr15:42325200-42326200	Weak transcription	HepG2	liver
20	chr15:42325200-42327200	Weak transcription	Placenta	Placenta

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