Variant report

Variant	rs57854154
Chromosome Location	chr1:175861516-175861517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10494494	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11589284	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11801399	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59730493	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60798496	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711161	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713224	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046259	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046262	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046263	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046265	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046266	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs980042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175848400-175862600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:175855000-175870600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:175855200-175862200	Weak transcription	Right Atrium	heart
4	chr1:175855200-175879400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:175855400-175869200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:175855400-175879400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:175857200-175875800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:175857600-175862200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:175857600-175879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:175858200-175879400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:175858600-175864600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:175858800-175876800	Weak transcription	HSMM	muscle
13	chr1:175858800-175879400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:175858800-175879400	Weak transcription	HSMMtube	muscle
15	chr1:175859200-175879400	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:175861200-175864000	Enhancers	K562	blood
17	chr1:175861200-175864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:175861400-175861800	Weak transcription	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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