Variant report

Variant	rs12825111
Chromosome Location	chr12:32257960-32257961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:32257928-32258034	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32257278..32259683-chr12:32278967..32281640,2	MCF-7	breast:

Variant related genes	Relation type
BICD1	TF binding region
ENSG00000271357	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10844125	1.00[ASN][1000 genomes]
rs11051793	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051794	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051795	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11051796	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051797	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051801	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12230302	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12828764	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs35763171	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58323840	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67981247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71457606	0.83[EUR][1000 genomes]
rs7302478	1.00[CHB][hapmap]
rs7959397	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32230000-32259200	Weak transcription	Right Atrium	heart
2	chr12:32250600-32258600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:32252600-32258400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:32253800-32258400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:32253800-32258800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:32254000-32259000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:32254200-32258400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:32254200-32258600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:32255200-32259000	Weak transcription	NHDF-Ad	bronchial
10	chr12:32257000-32258800	Weak transcription	HUVEC	blood vessel
11	chr12:32257200-32258000	Enhancers	Fetal Heart	heart
12	chr12:32257400-32258000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:32257400-32258000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:32257400-32258000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:32257400-32258000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:32257400-32258400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:32257400-32258600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:32257600-32259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:32257800-32258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:32257800-32258800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:32257800-32258800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:32257800-32258800	Weak transcription	K562	blood
23	chr12:32257800-32259000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:32257800-32259000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:32257800-32259000	Weak transcription	Right Ventricle	heart
26	chr12:32257800-32259200	Weak transcription	Left Ventricle	heart

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