Variant report

Variant	rs55894323
Chromosome Location	chr1:57315784-57315785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489623	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12401558	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12406202	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12407519	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1329449	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1885002	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1887977	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2269114	0.86[ASN][1000 genomes]
rs2269115	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2269118	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2269119	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2269121	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300954	0.90[ASN][1000 genomes]
rs2300955	0.90[ASN][1000 genomes]
rs35562962	0.86[ASN][1000 genomes]
rs57210737	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58983677	0.87[ASN][1000 genomes]
rs6681119	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6694643	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6697228	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72670317	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72670319	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72670327	0.86[ASN][1000 genomes]
rs857040	0.80[AMR][1000 genomes];0.85[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1000266	chr1:57291371-57319480	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57311200-57315800	Weak transcription	Fetal Brain Female	brain
2	chr1:57311600-57315800	Weak transcription	HepG2	liver
3	chr1:57314400-57317400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:57314600-57317000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:57314800-57316400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:57315000-57316000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:57315000-57316200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:57315000-57316400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:57315200-57315800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:57315200-57315800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:57315200-57315800	Enhancers	Brain Substantia Nigra	brain
12	chr1:57315200-57316400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:57315200-57317000	Enhancers	Brain Germinal Matrix	brain
14	chr1:57315600-57316000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:57315600-57316200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:57315600-57316400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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