Variant report

Variant	rs4569458
Chromosome Location	chr2:39764706-39764707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1023591	1.00[AMR][1000 genomes]
rs1526026	1.00[AMR][1000 genomes]
rs2056656	1.00[AMR][1000 genomes]
rs2888602	0.96[AFR][1000 genomes]
rs7573067	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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39753400-39768400	Weak transcription	Right Ventricle	heart
2	chr2:39753400-39768600	Weak transcription	Right Atrium	heart
3	chr2:39753600-39767000	Weak transcription	Psoas Muscle	Psoas
4	chr2:39758200-39767400	Weak transcription	Fetal Kidney	kidney
5	chr2:39758600-39766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:39758600-39767000	Weak transcription	Lung	lung
7	chr2:39760600-39766200	Weak transcription	Left Ventricle	heart
8	chr2:39761200-39765400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:39761200-39768200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:39761800-39769800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:39761800-39777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:39762200-39785000	Weak transcription	HSMMtube	muscle
13	chr2:39763000-39769400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:39763000-39773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:39763600-39768400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:39764400-39766600	Weak transcription	HSMM	muscle
17	chr2:39764600-39764800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:39764600-39765000	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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