Variant report

Variant	rs11111866
Chromosome Location	chr12:104392194-104392195
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104388319..104390087-chr12:104391982..104393996,2	K562	blood:
2	chr12:104391248..104393100-chr12:104457489..104459816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10507172	0.81[ASN][1000 genomes]
rs10507173	0.81[ASN][1000 genomes]
rs10861148	0.81[ASN][1000 genomes]
rs10861153	1.00[ASN][1000 genomes]
rs11111858	0.83[ASN][1000 genomes]
rs11111862	0.83[ASN][1000 genomes]
rs11111863	0.82[ASN][1000 genomes]
rs11111865	1.00[ASN][1000 genomes]
rs12579643	0.90[ASN][1000 genomes]
rs2164747	0.81[ASN][1000 genomes]
rs2293620	0.83[ASN][1000 genomes]
rs2293624	0.81[ASN][1000 genomes]
rs3751210	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817602	1.00[ASN][1000 genomes]
rs3829301	0.87[ASN][1000 genomes]
rs4135052	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4135054	0.83[ASN][1000 genomes]
rs4135068	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4135079	0.86[ASN][1000 genomes]
rs4135102	0.90[ASN][1000 genomes]
rs4135103	0.90[ASN][1000 genomes]
rs4135109	0.90[ASN][1000 genomes]
rs4135113	0.95[ASN][1000 genomes]
rs4135115	0.95[ASN][1000 genomes]
rs4135126	0.95[ASN][1000 genomes]
rs57179875	0.83[EUR][1000 genomes]
rs60033863	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61646543	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7137924	1.00[ASN][1000 genomes]
rs7295650	1.00[ASN][1000 genomes]
rs7305770	1.00[ASN][1000 genomes]
rs73388292	0.81[ASN][1000 genomes]
rs73390443	1.00[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
2	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:104380800-104395600	Weak transcription	Aorta	Aorta
4	chr12:104380800-104400200	Weak transcription	NHLF	lung
5	chr12:104381000-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:104381600-104392800	Weak transcription	Left Ventricle	heart
7	chr12:104385000-104400200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:104385400-104400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:104385600-104404000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:104385800-104400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:104387000-104400200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:104387200-104404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:104388800-104400200	Weak transcription	HSMM	muscle
14	chr12:104390400-104393000	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:104391200-104393000	Weak transcription	HSMMtube	muscle
16	chr12:104391200-104406200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:104391400-104393200	Enhancers	Fetal Stomach	stomach
18	chr12:104391400-104393400	Enhancers	Fetal Muscle Leg	muscle
19	chr12:104391600-104392600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:104391600-104406400	Weak transcription	Ovary	ovary
21	chr12:104392000-104392400	Weak transcription	K562	blood

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