Variant report

Variant	rs10128982
Chromosome Location	chr12:56289199-56289200
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56220693..56225301-chr12:56284725..56289550,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257390	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000182796	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1052206	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10783775	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10876858	0.90[ASN][1000 genomes]
rs10876861	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876862	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11171688	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12298127	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12320309	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817350	0.82[ASN][1000 genomes]
rs1463592	0.81[ASN][1000 genomes]
rs1681070	0.83[AMR][1000 genomes]
rs1681082	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1701698	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1701699	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1807168	0.81[ASN][1000 genomes]
rs4414258	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6581086	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6581087	0.84[AMR][1000 genomes]
rs705711	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs705715	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7135133	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297871	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7302957	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7308505	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs772461	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs772468	0.80[AMR][1000 genomes]
rs772475	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs772700	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs772704	0.94[CEU][hapmap]
rs7979046	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9739192	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9739196	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv719	chr12:56246405-56290812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
3	esv3347258	chr12:56267734-56298106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56270600-56292600	Weak transcription	HSMMtube	muscle
2	chr12:56273800-56292600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:56277000-56292600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:56280000-56294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:56283000-56294800	Weak transcription	Thymus	Thymus
7	chr12:56284400-56292800	Weak transcription	Primary B cells from cord blood	blood
8	chr12:56284800-56294000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
10	chr12:56285600-56293000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:56285800-56292800	Weak transcription	HSMM	muscle
12	chr12:56286800-56292000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:56287200-56294800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:56287400-56295000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:56288600-56292600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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