Variant report

Variant	rs12066223
Chromosome Location	chr1:93466817-93466818
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	chr1:93300622..93302663-chr1:93466102..93468590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11164817	1.00[AMR][1000 genomes]
rs11164834	1.00[AMR][1000 genomes]
rs11164852	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164859	1.00[AMR][1000 genomes]
rs12064459	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069560	1.00[AMR][1000 genomes]
rs12082513	1.00[AMR][1000 genomes]
rs12091803	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092810	1.00[AMR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer 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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93463800-93467600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93465200-93468000	Enhancers	Fetal Intestine Small	intestine
3	chr1:93465600-93467200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:93465800-93467000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:93465800-93467000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:93465800-93467000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:93465800-93467000	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:93465800-93467000	Enhancers	Brain Substantia Nigra	brain
9	chr1:93465800-93467200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:93465800-93467200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:93466000-93467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:93466000-93467000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:93466000-93467000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:93466000-93467000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:93466000-93467000	Enhancers	Brain Angular Gyrus	brain
16	chr1:93466000-93467000	Enhancers	Brain Anterior Caudate	brain
17	chr1:93466000-93467000	Enhancers	Brain Hippocampus Middle	brain
18	chr1:93466000-93467000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:93466000-93467000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:93466000-93467000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:93466000-93467000	Bivalent Enhancer	NH-A	brain
22	chr1:93466000-93467000	Enhancers	NHEK	skin
23	chr1:93466000-93467200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:93466000-93467200	Enhancers	Fetal Lung	lung
25	chr1:93466000-93467400	Enhancers	Fetal Muscle Leg	muscle
26	chr1:93466000-93468000	Enhancers	Fetal Intestine Large	intestine
27	chr1:93466200-93467000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:93466200-93467200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
29	chr1:93466400-93467000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:93466400-93467200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:93466400-93467200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:93466600-93467000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:93466600-93467000	Enhancers	GM12878-XiMat	blood
34	chr1:93466800-93467800	Enhancers	Placenta	Placenta

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