Variant report

Variant	rs34552698
Chromosome Location	chr12:41213443-41213444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12831625	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34031277	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34519483	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34778624	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34797157	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34862559	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35148802	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35234650	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35291059	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35319114	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35354319	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35489344	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35546944	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36063194	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58321893	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66467974	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67410126	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71449780	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71449781	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71449782	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71449783	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv469363	chr12:41155000-41214848	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv558698	chr12:41155000-41214848	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3435443	chr12:41206734-41222972	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41211400-41213600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:41211400-41214200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:41211600-41214400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:41212400-41214200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:41212600-41213800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:41212800-41213800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:41212800-41214000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr12:41212800-41214000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:41212800-41214000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:41212800-41214200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:41212800-41214200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:41212800-41214400	Enhancers	Fetal Stomach	stomach
13	chr12:41213000-41213600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:41213000-41213800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:41213000-41213800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:41213000-41213800	Enhancers	Fetal Muscle Trunk	muscle
17	chr12:41213000-41214000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:41213000-41214000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:41213000-41214000	Enhancers	A549	lung
20	chr12:41213000-41214000	Enhancers	NHEK	skin
21	chr12:41213000-41214400	Enhancers	Fetal Muscle Leg	muscle
22	chr12:41213200-41213600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:41213200-41213600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:41213200-41213800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr12:41213200-41213800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:41213200-41213800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:41213200-41213800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:41213400-41213800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:41213400-41213800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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