Variant report

Variant	rs11182406
Chromosome Location	chr12:44448074-44448075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44446827..44449468-chr12:44449634..44452541,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11182302	0.81[ASN][1000 genomes]
rs11182309	0.81[ASN][1000 genomes]
rs11182360	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182362	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182365	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182369	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182373	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182378	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182379	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182381	1.00[ASN][1000 genomes]
rs11182383	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182386	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182387	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182390	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182391	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182394	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182399	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182403	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182409	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182413	1.00[AMR][1000 genomes]
rs12228693	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231403	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231978	0.81[ASN][1000 genomes]
rs17094057	1.00[AMR][1000 genomes]
rs17094127	1.00[AMR][1000 genomes]
rs17094138	1.00[AMR][1000 genomes]
rs17094142	1.00[AMR][1000 genomes]
rs17094351	1.00[AMR][1000 genomes]
rs2012087	1.00[AMR][1000 genomes]
rs3858723	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8181703	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44438400-44449000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44439200-44464400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44445800-44448400	Enhancers	Hela-S3	cervix
4	chr12:44446400-44448200	Enhancers	Adipose Nuclei	Adipose
5	chr12:44446800-44448200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44446800-44448400	Enhancers	NHEK	skin
7	chr12:44447000-44448400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:44447000-44459800	Weak transcription	Gastric	stomach
9	chr12:44447200-44448400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:44447200-44448400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:44447400-44448200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:44447800-44448400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:44448000-44449000	Enhancers	Fetal Brain Male	brain

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