Variant report

Variant	rs72808209
Chromosome Location	chr2:63970559-63970560
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	chr2:63960179..63963716-chr2:63967320..63970574,3	MCF-7	breast:
2	chr2:63967574..63971406-chr2:64066655..64070037,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72808245	0.87[EUR][1000 genomes]
rs72808255	0.87[EUR][1000 genomes]
rs72808265	1.00[AMR][1000 genomes];0.87[EUR][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	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63957400-63971200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:63964400-63974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:63968200-63971600	Enhancers	HSMMtube	muscle
4	chr2:63968600-63971000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:63969000-63971600	Enhancers	Brain Substantia Nigra	brain
6	chr2:63969200-63972000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:63969200-63972000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:63969400-63970800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:63969400-63971200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:63969600-63970600	Enhancers	Pancreas	Pancrea
11	chr2:63969600-63971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:63969600-63971800	Enhancers	A549	lung
13	chr2:63969800-63971200	Weak transcription	NHDF-Ad	bronchial
14	chr2:63970000-63971000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:63970000-63971400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:63970000-63979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:63970200-63971200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:63970200-63980400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:63970400-63970600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:63970400-63970600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:63970400-63971600	Enhancers	Hela-S3	cervix
22	chr2:63970400-63972200	Enhancers	HepG2	liver
23	chr2:63970400-63982200	Weak transcription	Psoas Muscle	Psoas

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