Variant report

Variant	rs1394264
Chromosome Location	chr12:67431630-67431631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67430001..67432291-chr12:67437281..67438811,2	K562	blood:
2	chr12:67428119..67432291-chr12:67435591..67438811,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10506539	0.93[ASN][1000 genomes]
rs12304757	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12307060	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1354441	0.93[ASN][1000 genomes]
rs17836619	0.96[ASN][1000 genomes]
rs4512934	0.94[ASN][1000 genomes]
rs61918830	0.81[ASN][1000 genomes]
rs6581729	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs67372824	0.81[ASN][1000 genomes]
rs7135250	0.94[ASN][1000 genomes]
rs7955793	0.96[ASN][1000 genomes]
rs7967114	0.94[ASN][1000 genomes]
rs7980587	0.94[ASN][1000 genomes]
rs905692	0.93[ASN][1000 genomes]
rs905699	0.94[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67428800-67433200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67428800-67433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:67428800-67436600	Weak transcription	NH-A	brain
4	chr12:67428800-67439200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:67429000-67433200	Weak transcription	HMEC	breast
6	chr12:67429000-67436200	Weak transcription	A549	lung
7	chr12:67429200-67431800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:67429200-67431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:67429400-67432000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:67429400-67437800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:67429600-67431800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:67429600-67436400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:67429600-67436400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:67429800-67431800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:67429800-67432000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:67429800-67433200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:67429800-67436600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:67430800-67434400	Weak transcription	Placenta	Placenta
19	chr12:67431200-67434200	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:67431600-67432000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr12:67431600-67432200	Enhancers	HUES6 Cell Line	embryonic stem cell

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