Variant report

Variant	rs11112019
Chromosome Location	chr12:104771399-104771400
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	chr12:104770811..104773489-chr12:104774057..104776555,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10861211	0.82[AFR][1000 genomes]
rs10861212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112022	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4436618	0.82[AFR][1000 genomes]
rs4964788	0.81[AFR][1000 genomes]
rs6539141	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7311795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311851	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953266	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104766000-104778200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104766400-104775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:104766800-104774800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:104767200-104775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104767200-104776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:104768800-104775400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:104769200-104775400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:104770200-104771400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:104770200-104771600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:104770400-104771400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:104770400-104771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:104770400-104771400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:104770400-104771400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:104770400-104771400	Enhancers	NHDF-Ad	bronchial
15	chr12:104770400-104771400	Enhancers	NHEK	skin
16	chr12:104770600-104771400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:104770600-104771400	Enhancers	HMEC	breast
18	chr12:104770800-104771400	Active TSS	Brain Hippocampus Middle	brain
19	chr12:104770800-104771400	Flanking Active TSS	Osteobl	bone
20	chr12:104770800-104775600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:104771000-104771400	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:104771000-104771400	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr12:104771000-104771600	Enhancers	A549	lung
24	chr12:104771000-104772200	Enhancers	Placenta	Placenta
25	chr12:104771000-104775400	Weak transcription	Brain Angular Gyrus	brain
26	chr12:104771000-104775400	Weak transcription	Hela-S3	cervix
27	chr12:104771200-104771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:104771200-104771400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:104771200-104771600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:104771200-104775200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:104771200-104775400	Weak transcription	Brain Anterior Caudate	brain
32	chr12:104771200-104775600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:104771200-104775600	Weak transcription	NHLF	lung

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