Variant report

Variant	rs774392
Chromosome Location	chr12:67428382-67428383
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10506517	1.00[ASN][1000 genomes]
rs1252288	0.91[ASN][1000 genomes]
rs1252291	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252292	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270488	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2655484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710631	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774386	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774395	0.87[ASN][1000 genomes]
rs774396	0.98[ASN][1000 genomes]
rs774399	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774400	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs941095	0.91[ASN][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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041160	chr12:67357870-67439696	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67421200-67428400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67422000-67428400	Weak transcription	Right Atrium	heart
3	chr12:67427200-67428800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67427600-67428800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:67427600-67428800	Enhancers	NHEK	skin
6	chr12:67427600-67429400	Enhancers	Brain Germinal Matrix	brain
7	chr12:67427600-67429600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:67427800-67429000	Enhancers	HMEC	breast
9	chr12:67428000-67428600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:67428000-67428800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:67428000-67428800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:67428000-67428800	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:67428000-67429400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:67428000-67429400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr12:67428000-67429800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:67428000-67429800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:67428000-67429800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:67428200-67428800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:67428200-67430800	Enhancers	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
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