Variant report

Variant	rs73094587
Chromosome Location	chr12:33146428-33146429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11832246	1.00[EUR][1000 genomes]
rs11837196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837269	1.00[EUR][1000 genomes]
rs11837863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1500052	1.00[EUR][1000 genomes]
rs16920527	1.00[EUR][1000 genomes]
rs28656383	1.00[EUR][1000 genomes]
rs4076730	1.00[AMR][1000 genomes]
rs4499080	1.00[EUR][1000 genomes]
rs57076983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58128714	1.00[EUR][1000 genomes]
rs58326642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092441	1.00[AMR][1000 genomes]
rs73092447	1.00[AMR][1000 genomes]
rs73092465	1.00[AMR][1000 genomes]
rs73092467	1.00[AMR][1000 genomes]
rs73092469	1.00[AMR][1000 genomes]
rs73092471	1.00[AMR][1000 genomes]
rs73092477	1.00[AMR][1000 genomes]
rs73092701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094596	1.00[EUR][1000 genomes]
rs73096635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096655	1.00[EUR][1000 genomes]
rs73096690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098610	1.00[AMR][1000 genomes]
rs73098627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098638	1.00[EUR][1000 genomes]
rs73098655	1.00[AMR][1000 genomes]
rs73098660	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33140600-33164800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:33141600-33147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:33142800-33147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:33143000-33147200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:33143000-33147800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:33143000-33149800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:33143200-33146600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:33143200-33147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:33143600-33147000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:33143800-33150400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:33144200-33150000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:33144400-33146600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:33144400-33146800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:33144400-33150000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:33144600-33147000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:33145600-33147800	Enhancers	Fetal Kidney	kidney
17	chr12:33146400-33147000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:33146400-33147400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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