Variant report

Variant	rs72804523
Chromosome Location	chr2:57924136-57924137
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17049066	1.00[AFR][1000 genomes]
rs72802580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72804525	1.00[AFR][1000 genomes]
rs72816594	1.00[AFR][1000 genomes]
rs72818146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1007420	chr2:57875786-57924300	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57921400-57925800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:57921400-57927600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:57921800-57928200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:57923000-57924200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:57923000-57924200	Genic enhancers	Fetal Thymus	thymus
6	chr2:57923400-57925000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:57923600-57924200	Genic enhancers	Thymus	Thymus
8	chr2:57923600-57924600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:57923600-57926000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:57923600-57928000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:57923800-57926200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:57924000-57924200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:57924000-57924200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:57924000-57925800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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