Variant report

Variant	rs56088944
Chromosome Location	chr5:113721388-113721389
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10050368	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10060646	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1457764	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1840983	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55697384	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55914631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55941350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57406559	1.00[AMR][1000 genomes]
rs57975370	1.00[AMR][1000 genomes]
rs58003154	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58263371	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58502173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60410279	1.00[ASN][1000 genomes]
rs61115935	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61223690	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6885839	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73782205	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73782212	0.93[ASN][1000 genomes]
rs73782217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73782220	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73782221	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73782222	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73782224	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73782225	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73782226	0.85[ASN][1000 genomes]
rs73782229	1.00[AMR][1000 genomes]
rs73782233	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782236	1.00[AMR][1000 genomes]
rs922126	1.00[AMR][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	nsv882728	chr5:113651694-113731423	Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer 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	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113713200-113730800	Weak transcription	Brain Anterior Caudate	brain
2	chr5:113715000-113722400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:113715000-113722600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:113715000-113722800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:113715000-113723800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:113715000-113727800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:113716600-113722000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:113718000-113722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:113718800-113722200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:113720000-113721400	Enhancers	Brain Hippocampus Middle	brain
11	chr5:113720600-113722400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:113720800-113721400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:113721000-113721400	Enhancers	Brain Substantia Nigra	brain
14	chr5:113721200-113721400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:113721200-113721400	Enhancers	Cortex derived primary cultured neurospheres	brain

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