Variant report

Variant	rs12278754
Chromosome Location	chr11:108423467-108423468
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	chr11:108422127..108426041-chr11:108463043..108466411,3	K562	blood:
2	chr11:108418879..108421922-chr11:108422966..108427217,5	K562	blood:

Variant related genes	Relation type
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10890850	1.00[EUR][1000 genomes]
rs11212688	1.00[EUR][1000 genomes]
rs11212696	1.00[EUR][1000 genomes]
rs12269879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271580	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274421	1.00[EUR][1000 genomes]
rs12280686	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12286855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1813558	1.00[ASN][1000 genomes]
rs1940209	1.00[EUR][1000 genomes]
rs1940210	1.00[EUR][1000 genomes]
rs4384355	1.00[EUR][1000 genomes]
rs4437999	1.00[EUR][1000 genomes]
rs72999746	1.00[ASN][1000 genomes]
rs73547096	1.00[EUR][1000 genomes]
rs73550531	1.00[ASN][1000 genomes]
rs9971453	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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108417200-108441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:108420000-108424000	Enhancers	Placenta	Placenta
3	chr11:108420800-108423800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:108420800-108427600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:108422000-108423600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:108422200-108423600	Enhancers	Stomach Mucosa	stomach
7	chr11:108422200-108423600	Flanking Active TSS	K562	blood
8	chr11:108422200-108424200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr11:108422400-108441600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:108422600-108423600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:108422600-108423600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:108422800-108425800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:108423000-108423600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:108423000-108436000	Weak transcription	Fetal Intestine Small	intestine
15	chr11:108423200-108423600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:108423200-108423600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:108423200-108427600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:108423200-108429600	Weak transcription	NHLF	lung
19	chr11:108423400-108427000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:108423400-108429000	Weak transcription	HSMMtube	muscle
21	chr11:108423400-108429000	Weak transcription	NHEK	skin
22	chr11:108423400-108430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:108423400-108432200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:108423400-108432400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:108423400-108436000	Weak transcription	Liver	Liver

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