Variant report

Variant	rs72678492
Chromosome Location	chr14:47578479-47578480
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11157541	0.82[ASN][1000 genomes]
rs17118061	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17118068	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17118101	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1952214	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958095	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1958096	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182523	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182524	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4420422	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569169	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780781	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61995372	0.82[ASN][1000 genomes]
rs61995373	0.82[ASN][1000 genomes]
rs7154126	0.82[ASN][1000 genomes]
rs72678484	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72678485	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72678486	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72678488	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72678490	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680219	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72680224	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8004939	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8006382	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv542086	chr14:46905406-47662394	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv564754	chr14:47162140-47633066	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1053846	chr14:47465690-47636016	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1052509	chr14:47497898-47622785	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47573400-47580800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr14:47576800-47582000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:47578000-47578600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr14:47578000-47578600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr14:47578000-47579000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr14:47578000-47579400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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