Variant report

Variant	rs12985708
Chromosome Location	chr19:21886709-21886710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs12971857	0.86[EUR][1000 genomes]
rs12972019	0.86[EUR][1000 genomes]
rs12972529	0.86[EUR][1000 genomes]
rs12972582	0.86[EUR][1000 genomes]
rs12972656	0.86[EUR][1000 genomes]
rs12973310	0.86[EUR][1000 genomes]
rs12973788	0.86[EUR][1000 genomes]
rs12973798	0.86[EUR][1000 genomes]
rs12974150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12975386	0.86[EUR][1000 genomes]
rs12975387	0.86[EUR][1000 genomes]
rs12977947	0.86[EUR][1000 genomes]
rs12978145	0.86[EUR][1000 genomes]
rs12979324	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981854	0.86[EUR][1000 genomes]
rs12982134	0.86[EUR][1000 genomes]
rs12982328	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12982588	0.86[EUR][1000 genomes]
rs12982621	0.86[EUR][1000 genomes]
rs12983229	0.82[EUR][1000 genomes]
rs12985617	0.84[EUR][1000 genomes]
rs16998300	0.86[EUR][1000 genomes]
rs28492771	0.86[EUR][1000 genomes]
rs34063259	0.86[EUR][1000 genomes]
rs34387769	0.86[EUR][1000 genomes]
rs34431884	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34569334	0.86[EUR][1000 genomes]
rs34617884	0.86[EUR][1000 genomes]
rs34627818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34632362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34652503	0.86[EUR][1000 genomes]
rs34906160	0.86[EUR][1000 genomes]
rs34908429	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34926877	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34984675	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35161629	0.82[EUR][1000 genomes]
rs35251105	0.86[EUR][1000 genomes]
rs35336315	0.86[EUR][1000 genomes]
rs35358346	0.86[EUR][1000 genomes]
rs35367448	0.86[EUR][1000 genomes]
rs35407033	0.86[EUR][1000 genomes]
rs35409731	0.86[EUR][1000 genomes]
rs35441629	0.86[EUR][1000 genomes]
rs35447051	0.82[EUR][1000 genomes]
rs35451495	0.86[EUR][1000 genomes]
rs35577863	0.86[EUR][1000 genomes]
rs35584589	0.86[EUR][1000 genomes]
rs35587380	0.86[EUR][1000 genomes]
rs35588095	0.86[EUR][1000 genomes]
rs35590941	0.86[EUR][1000 genomes]
rs35621425	0.86[EUR][1000 genomes]
rs35646356	0.86[EUR][1000 genomes]
rs35715827	0.86[EUR][1000 genomes]
rs35725943	0.86[EUR][1000 genomes]
rs35881881	0.86[EUR][1000 genomes]
rs35923238	0.86[EUR][1000 genomes]
rs35965384	0.86[EUR][1000 genomes]
rs36104232	0.86[EUR][1000 genomes]
rs55694447	0.81[EUR][1000 genomes]
rs55799773	0.86[EUR][1000 genomes]
rs55817748	0.86[EUR][1000 genomes]
rs57394342	0.86[EUR][1000 genomes]
rs57450176	0.86[EUR][1000 genomes]
rs58873883	0.86[EUR][1000 genomes]
rs59556202	0.86[EUR][1000 genomes]
rs59825581	0.86[EUR][1000 genomes]
rs60086097	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61182414	0.84[EUR][1000 genomes]
rs61196724	0.86[EUR][1000 genomes]
rs73928595	0.86[EUR][1000 genomes]
rs73928772	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74167876	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74167877	0.86[EUR][1000 genomes]
rs74167878	0.86[EUR][1000 genomes]
rs74167879	0.86[EUR][1000 genomes]
rs74167880	0.86[EUR][1000 genomes]
rs74167882	0.86[EUR][1000 genomes]
rs8107583	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv833783	chr19:21821406-21991838	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv1815274	chr19:21825750-21981855	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21880200-21888800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:21881400-21887200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:21882200-21888000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:21883000-21887000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:21886400-21887000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr19:21886600-21886800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr19:21886600-21887000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr19:21886600-21887000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr19:21886600-21887200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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