Variant report

Variant	rs11111974
Chromosome Location	chr12:104671853-104671854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104657761..104659817-chr12:104670354..104673029,2	MCF-7	breast:
2	chr12:104671228..104673163-chr12:104680722..104683661,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213442	Chromatin interaction
ENSG00000198431	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10861184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829922	0.83[AMR][1000 genomes]
rs12299450	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302216	1.00[ASN][1000 genomes]
rs12305918	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17807362	0.83[AMR][1000 genomes]
rs35483264	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57416848	0.83[AMR][1000 genomes]
rs57718153	0.83[AMR][1000 genomes]
rs58729796	0.83[AMR][1000 genomes]
rs59185359	0.83[AMR][1000 genomes]
rs61690515	0.83[AMR][1000 genomes]
rs73392594	0.83[AMR][1000 genomes]
rs73394521	0.83[AMR][1000 genomes]
rs73394563	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:104664600-104673200	Weak transcription	HSMM	muscle
4	chr12:104667600-104679600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104669800-104672800	Enhancers	HUVEC	blood vessel
6	chr12:104670000-104674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:104670400-104672800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:104670400-104674000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:104670400-104674200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:104670400-104679600	Weak transcription	Thymus	Thymus
11	chr12:104670600-104672800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:104670600-104672800	Weak transcription	HSMMtube	muscle
13	chr12:104670600-104672800	Weak transcription	NHLF	lung
14	chr12:104670600-104673200	Weak transcription	HMEC	breast
15	chr12:104670600-104673200	Weak transcription	K562	blood
16	chr12:104670600-104674000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:104670600-104674000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:104670600-104679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:104670600-104679800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:104671400-104672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:104671400-104673400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:104671400-104674200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:104671600-104672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:104671600-104672800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:104671600-104672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:104671600-104673200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:104671600-104674000	Weak transcription	Stomach Mucosa	stomach
28	chr12:104671800-104672000	Active TSS	Hela-S3	cervix
29	chr12:104671800-104672600	Weak transcription	A549	lung
30	chr12:104671800-104672800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:104671800-104672800	Weak transcription	NH-A	brain
32	chr12:104671800-104672800	Weak transcription	NHDF-Ad	bronchial
33	chr12:104671800-104672800	Weak transcription	NHEK	skin
34	chr12:104671800-104672800	Weak transcription	Osteobl	bone
35	chr12:104671800-104674200	Weak transcription	HepG2	liver

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