Variant report

Variant	rs12824894
Chromosome Location	chr12:59643856-59643857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11830159	0.82[EUR][1000 genomes]
rs11832063	0.80[EUR][1000 genomes]
rs11833678	0.83[EUR][1000 genomes]
rs11835273	0.82[EUR][1000 genomes]
rs11837506	0.82[EUR][1000 genomes]
rs12810255	0.93[EUR][1000 genomes]
rs12810352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12810370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812247	0.93[EUR][1000 genomes]
rs12812349	0.84[EUR][1000 genomes]
rs12812654	0.84[EUR][1000 genomes]
rs12815892	0.82[EUR][1000 genomes]
rs12817396	0.80[EUR][1000 genomes]
rs12823449	0.82[EUR][1000 genomes]
rs12824908	0.82[EUR][1000 genomes]
rs12831896	0.84[EUR][1000 genomes]
rs17122285	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17122292	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2203392	0.81[EUR][1000 genomes]
rs34238449	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34418591	0.94[EUR][1000 genomes]
rs34531399	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35103945	0.81[EUR][1000 genomes]
rs35337561	0.84[EUR][1000 genomes]
rs35377390	0.82[EUR][1000 genomes]
rs35407860	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35438740	0.90[EUR][1000 genomes]
rs35563376	0.94[EUR][1000 genomes]
rs35710665	0.82[EUR][1000 genomes]
rs35715187	0.82[EUR][1000 genomes]
rs35797812	0.93[EUR][1000 genomes]
rs36011226	0.95[EUR][1000 genomes]
rs36094921	0.93[EUR][1000 genomes]
rs4447211	0.82[EUR][1000 genomes]
rs56179488	0.82[EUR][1000 genomes]
rs56376003	0.84[EUR][1000 genomes]
rs66861324	0.82[EUR][1000 genomes]
rs66931930	0.82[EUR][1000 genomes]
rs67042072	0.82[EUR][1000 genomes]
rs67534243	0.82[EUR][1000 genomes]
rs7134200	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs73120170	0.94[EUR][1000 genomes]
rs73120185	0.82[EUR][1000 genomes]
rs73121907	0.82[EUR][1000 genomes]
rs7314663	0.80[EUR][1000 genomes]
rs7484879	0.82[EUR][1000 genomes]
rs7487998	0.93[EUR][1000 genomes]
rs7962767	0.94[EUR][1000 genomes]
rs7975333	0.90[EUR][1000 genomes]
rs982772	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1054961	chr12:59516659-59764209	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv541506	chr12:59516659-59764209	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv559052	chr12:59532203-59809256	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1050375	chr12:59550900-59655366	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv832430	chr12:59552811-59658333	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1039996	chr12:59556074-59645306	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv559053	chr12:59563004-59643856	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv899127	chr12:59575430-59683281	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1051696	chr12:59622403-59741106	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv899128	chr12:59636969-59766169	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59638800-59644200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:59642600-59646600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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