Variant report

Variant	rs12087223
Chromosome Location	chr1:95014692-95014693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95005939..95010305-chr1:95012395..95021281,11	MCF-7	breast:
2	chr1:95007066..95011283-chr1:95013175..95017472,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117525	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11582784	1.00[ASN][1000 genomes]
rs12034688	1.00[ASN][1000 genomes]
rs55834021	1.00[ASN][1000 genomes]
rs56023603	1.00[ASN][1000 genomes]
rs6660609	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95008200-95015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:95008200-95015600	Weak transcription	Pancreas	Pancrea
3	chr1:95008200-95018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:95008200-95019800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:95008800-95014800	Weak transcription	HepG2	liver
6	chr1:95008800-95015000	Weak transcription	Fetal Kidney	kidney
7	chr1:95008800-95015600	Weak transcription	Esophagus	oesophagus
8	chr1:95008800-95015600	Weak transcription	Placenta	Placenta
9	chr1:95008800-95016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:95009800-95016200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:95010200-95017600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:95010400-95017800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:95010600-95015000	Weak transcription	Stomach Mucosa	stomach
14	chr1:95010600-95015600	Weak transcription	HSMMtube	muscle
15	chr1:95010800-95016600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:95011000-95016400	Weak transcription	Fetal Heart	heart
17	chr1:95011000-95017200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:95011000-95019000	Weak transcription	HSMM	muscle
19	chr1:95011200-95014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:95011600-95018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:95011600-95025400	Weak transcription	NHLF	lung
22	chr1:95012000-95014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:95012000-95014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:95013600-95022000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:95014000-95016000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:95014000-95017800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:95014600-95018800	Enhancers	NHEK	skin
28	chr1:95014600-95022400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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