Variant report

Variant	rs72804525
Chromosome Location	chr2:57926859-57926860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11690473	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17049066	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72802580	1.00[AFR][1000 genomes]
rs72804522	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72804523	1.00[AFR][1000 genomes]
rs72804529	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72816594	1.00[AFR][1000 genomes]
rs72818146	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57921400-57927600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:57921800-57928200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:57923600-57928000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:57924200-57927400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:57924200-57929600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:57924600-57927200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:57925400-57928000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:57925800-57927000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:57925800-57927000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:57926000-57927200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:57926200-57927600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:57926400-57927000	Enhancers	Primary T cells from cord blood	blood
13	chr2:57926400-57928600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:57926600-57927600	Enhancers	Thymus	Thymus
15	chr2:57926600-57928600	Genic enhancers	Fetal Thymus	thymus
16	chr2:57926600-57928800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:57926600-57928800	Weak transcription	iPS DF 6.9 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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