Variant report

Variant	rs12308383
Chromosome Location	chr12:49531766-49531767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49531218..49534507-chr12:49536694..49541334,4	K562	blood:
2	chr12:49523677..49527856-chr12:49529578..49534524,9	MCF-7	breast:
3	chr12:49530579..49532896-chr12:49538813..49542516,4	K562	blood:
4	chr12:49530961..49533783-chr12:49580481..49584287,4	MCF-7	breast:
5	chr12:49530122..49533493-chr12:49657704..49660663,3	K562	blood:
6	chr12:49482687..49485468-chr12:49530942..49533041,2	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000200309	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11168855	1.00[AMR][1000 genomes]
rs11168858	1.00[AMR][1000 genomes]
rs11168871	1.00[AMR][1000 genomes]
rs11168898	0.95[AFR][1000 genomes]
rs11168899	0.91[AFR][1000 genomes]
rs11168905	0.91[AFR][1000 genomes]
rs12296189	0.91[AFR][1000 genomes]
rs12296265	0.89[AFR][1000 genomes]
rs12298540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298869	0.91[AFR][1000 genomes]
rs12301841	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309311	1.00[AMR][1000 genomes]
rs12311604	1.00[AMR][1000 genomes]
rs12314634	1.00[AMR][1000 genomes]
rs12314888	1.00[AMR][1000 genomes]
rs12318907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320695	1.00[AMR][1000 genomes]
rs59178045	1.00[AMR][1000 genomes]
rs61539002	0.83[AMR][1000 genomes]
rs61557154	1.00[AMR][1000 genomes]
rs61648563	0.91[AFR][1000 genomes]
rs73304131	1.00[AMR][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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49527000-49532000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:49527000-49532400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:49527000-49533000	Weak transcription	Fetal Stomach	stomach
4	chr12:49527000-49534400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:49527000-49555200	Weak transcription	Thymus	Thymus
6	chr12:49527200-49531800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:49527200-49533000	Weak transcription	Fetal Brain Female	brain
8	chr12:49527600-49532000	Weak transcription	K562	blood
9	chr12:49527600-49532200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:49527600-49532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:49527600-49542400	Weak transcription	A549	lung
12	chr12:49527800-49532400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:49527800-49534600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:49527800-49537200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:49527800-49542400	Weak transcription	Fetal Brain Male	brain
16	chr12:49527800-49542800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:49527800-49543000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:49528000-49531800	Weak transcription	Hela-S3	cervix
19	chr12:49528000-49532000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:49528000-49532200	Weak transcription	Dnd41	blood
21	chr12:49528000-49532400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:49528000-49544000	Weak transcription	GM12878-XiMat	blood
23	chr12:49531600-49532000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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