Variant report

Variant	rs1282969
Chromosome Location	chr3:111566423-111566424
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	chr3:111566221..111568973-chr3:111577173..111579400,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144824	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1039309	1.00[AMR][1000 genomes]
rs10755070	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12171297	1.00[AMR][1000 genomes]
rs1282971	0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1282973	1.00[AFR][1000 genomes]
rs1352888	1.00[AMR][1000 genomes]
rs1463875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1553226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2055363	1.00[AMR][1000 genomes]
rs28809607	1.00[AMR][1000 genomes]
rs4682064	1.00[AMR][1000 genomes]
rs7340610	0.81[AFR][1000 genomes]
rs7340688	1.00[AMR][1000 genomes]
rs7616227	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7644889	1.00[AMR][1000 genomes]
rs8179903	1.00[AMR][1000 genomes]
rs937555	1.00[AMR][1000 genomes]
rs937556	0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs937558	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr3:111541200-111577600	Weak transcription	Pancreas	Pancrea
2	chr3:111559600-111567400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:111559800-111567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:111563000-111577400	Weak transcription	HepG2	liver
5	chr3:111563600-111568400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:111563800-111571200	Weak transcription	Stomach Mucosa	stomach
7	chr3:111564400-111567800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:111564400-111568400	Enhancers	NHEK	skin
9	chr3:111564600-111568000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:111564600-111568000	Enhancers	HMEC	breast
11	chr3:111564600-111568400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:111564600-111568400	Enhancers	Hela-S3	cervix
13	chr3:111564800-111567800	Strong transcription	Liver	Liver
14	chr3:111564800-111568200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:111564800-111568200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:111565000-111567600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:111565000-111571200	Enhancers	Placenta	Placenta
18	chr3:111565400-111566800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:111565400-111567200	Weak transcription	NHDF-Ad	bronchial
20	chr3:111565400-111569400	Weak transcription	NHLF	lung
21	chr3:111565600-111570200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:111565800-111567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:111565800-111570200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:111565800-111570200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:111565800-111570600	Weak transcription	HSMM	muscle
26	chr3:111566000-111567400	Weak transcription	A549	lung
27	chr3:111566000-111569600	Weak transcription	Osteobl	bone
28	chr3:111566000-111571400	Weak transcription	Fetal Heart	heart
29	chr3:111566200-111567600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:111566200-111567600	Enhancers	HUVEC	blood vessel
31	chr3:111566200-111570000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:111566200-111570000	Weak transcription	NH-A	brain
33	chr3:111566200-111570400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:111566200-111577400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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