Variant report

Variant	rs12223139
Chromosome Location	chr11:93590603-93590604
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93584944..93588015-chr11:93589210..93592115,3	K562	blood:
2	chr11:93589131..93590724-chr11:93594379..93597024,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10831108	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831109	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831111	0.92[ASN][1000 genomes]
rs10831112	0.91[ASN][1000 genomes]
rs10831113	0.92[ASN][1000 genomes]
rs10831114	0.92[ASN][1000 genomes]
rs10831115	0.92[ASN][1000 genomes]
rs10831116	0.92[ASN][1000 genomes]
rs10831117	0.92[ASN][1000 genomes]
rs10831119	0.92[ASN][1000 genomes]
rs10831120	0.92[ASN][1000 genomes]
rs10831121	0.92[ASN][1000 genomes]
rs10831122	0.92[ASN][1000 genomes]
rs10831123	0.92[ASN][1000 genomes]
rs11020543	0.94[AFR][1000 genomes]
rs11020544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11020546	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11020548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020549	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020551	0.92[ASN][1000 genomes]
rs11020553	0.92[ASN][1000 genomes]
rs11020554	0.92[ASN][1000 genomes]
rs11020556	0.92[ASN][1000 genomes]
rs11020557	0.92[ASN][1000 genomes]
rs11020558	0.92[ASN][1000 genomes]
rs11020559	0.92[ASN][1000 genomes]
rs11020560	0.92[ASN][1000 genomes]
rs11020561	0.88[ASN][1000 genomes]
rs11020562	0.88[ASN][1000 genomes]
rs11020563	0.91[ASN][1000 genomes]
rs11020564	0.91[ASN][1000 genomes]
rs11020565	0.91[ASN][1000 genomes]
rs11020567	0.90[ASN][1000 genomes]
rs11020568	0.88[ASN][1000 genomes]
rs11529071	0.90[ASN][1000 genomes]
rs11529072	0.87[ASN][1000 genomes]
rs11529073	0.87[ASN][1000 genomes]
rs11529074	0.90[ASN][1000 genomes]
rs11529075	0.90[ASN][1000 genomes]
rs11823708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361848	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12362058	0.92[ASN][1000 genomes]
rs12363552	0.92[ASN][1000 genomes]
rs12797890	0.90[ASN][1000 genomes]
rs1848080	0.92[ASN][1000 genomes]
rs1848081	0.92[ASN][1000 genomes]
rs1857920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28855699	0.87[ASN][1000 genomes]
rs34557976	0.90[ASN][1000 genomes]
rs35392171	0.82[ASN][1000 genomes]
rs61904774	0.90[ASN][1000 genomes]
rs61904776	0.90[ASN][1000 genomes]
rs7111141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122414	0.92[ASN][1000 genomes]
rs7122431	0.92[ASN][1000 genomes]
rs7129465	0.92[ASN][1000 genomes]
rs7925205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940881	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919548	0.92[ASN][1000 genomes]
rs9919585	0.92[ASN][1000 genomes]
rs9919626	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93584000-93591000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:93588600-93590800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:93589600-93592800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:93589600-93593200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:93589600-93594600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:93589800-93593200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:93589800-93593800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:93589800-93595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:93590000-93592000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:93590000-93592800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:93590200-93592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:93590200-93594000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:93590400-93590800	Enhancers	Adipose Nuclei	Adipose
14	chr11:93590400-93591000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:93590400-93591600	Enhancers	Fetal Brain Female	brain
16	chr11:93590400-93591800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:93590600-93591200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:93590600-93591200	Enhancers	Left Ventricle	heart
19	chr11:93590600-93591200	Enhancers	Osteobl	bone
20	chr11:93590600-93591600	Enhancers	Stomach Mucosa	stomach
21	chr11:93590600-93591800	Enhancers	Aorta	Aorta
22	chr11:93590600-93591800	Enhancers	Fetal Muscle Leg	muscle
23	chr11:93590600-93592000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:93590600-93592000	Enhancers	Fetal Brain Male	brain

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