Variant report

Variant	rs72801830
Chromosome Location	chr5:113773913-113773914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35301607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62378430	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62379173	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62379175	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62379176	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62381464	0.83[EUR][1000 genomes]
rs62381467	0.86[EUR][1000 genomes]
rs62381469	0.83[EUR][1000 genomes]
rs72799674	0.83[EUR][1000 genomes]
rs72799694	0.91[EUR][1000 genomes]
rs72801807	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr5:113769800-113774200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:113769800-113774600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:113769800-113776200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:113770000-113774400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:113770600-113782200	Weak transcription	Liver	Liver
6	chr5:113770600-113784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:113772000-113777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:113772000-113782800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:113772600-113774000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:113772600-113776400	Enhancers	Fetal Brain Male	brain
11	chr5:113772800-113774200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:113772800-113774600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:113773200-113774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:113773200-113774400	Enhancers	Fetal Brain Female	brain
15	chr5:113773400-113774600	Enhancers	Fetal Heart	heart
16	chr5:113773800-113774000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:113773800-113774600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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