Variant report

Variant	rs59681554
Chromosome Location	chr2:152588933-152588934
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57096978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59607184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60629492	1.00[AFR][1000 genomes]
rs72995383	1.00[AMR][1000 genomes]
rs72995385	1.00[AMR][1000 genomes]
rs72995390	1.00[AMR][1000 genomes]
rs72995402	1.00[AMR][1000 genomes]
rs73007953	1.00[AFR][1000 genomes]
rs73007959	1.00[AFR][1000 genomes]
rs73007985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011622	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152584000-152591000	Enhancers	Fetal Lung	lung
2	chr2:152584800-152610400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:152587000-152596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:152587600-152590400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:152587600-152591200	Active TSS	Fetal Muscle Trunk	muscle
6	chr2:152587800-152591000	Active TSS	Fetal Muscle Leg	muscle
7	chr2:152588000-152590400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:152588000-152595600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:152588200-152590600	Weak transcription	HSMM	muscle
10	chr2:152588200-152590800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:152588200-152590800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:152588200-152590800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:152588400-152590000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
14	chr2:152588400-152590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:152588400-152590800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:152588600-152590000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr2:152588600-152590400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:152588600-152591000	Active TSS	Psoas Muscle	Psoas
19	chr2:152588600-152591000	Active TSS	HSMMtube	muscle

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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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