Variant report

Variant	rs12972815
Chromosome Location	chr19:21807537-21807538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10084109	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10084138	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11085486	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11085487	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11883081	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12461503	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12463374	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12971307	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12974325	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12974904	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12975166	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12975385	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12975884	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12976124	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12977757	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12978917	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12981463	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12982185	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12982200	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12982427	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12982467	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12982468	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12982643	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12982922	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12983121	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12985689	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12985836	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12985947	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12986008	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2090703	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2090704	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2090705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2102921	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808282	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808283	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4808284	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4809157	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4809158	0.86[EUR][1000 genomes]
rs4809162	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4809163	0.86[EUR][1000 genomes]
rs4809164	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4994197	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4994198	0.88[EUR][1000 genomes]
rs4994199	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4994200	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6511277	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6511278	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7256894	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7257154	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7257340	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7257623	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7259283	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7260083	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs939305	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9973271	0.82[AMR][1000 genomes];0.90[EUR][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	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers 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
7	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv911423	chr19:21783995-21858994	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv458525	chr19:21796943-22019697	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv578969	chr19:21796943-22019697	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv3392559	chr19:21798396-21965956	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2760530	chr19:21798427-21885936	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv963135	chr19:21800743-21892052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21801400-21808000	Weak transcription	Dnd41	blood
2	chr19:21805000-21808800	Weak transcription	Fetal Intestine Large	intestine
3	chr19:21805800-21807800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr19:21806200-21817000	Weak transcription	Fetal Intestine Small	intestine
5	chr19:21806600-21808000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:21806800-21808000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr19:21807000-21807600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr19:21807000-21807800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:21807000-21808200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr19:21807200-21807600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr19:21807400-21811200	Enhancers	K562	blood

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