Variant report

Variant	rs706354
Chromosome Location	chr1:57485490-57485491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57474408..57475958-chr1:57482944..57485883,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11811443	0.93[EUR][1000 genomes]
rs1342432	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17114796	0.96[EUR][1000 genomes]
rs17416642	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416655	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17417626	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17449278	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17450593	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450764	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17451933	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41286862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57172704	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57655464	1.00[EUR][1000 genomes]
rs59236630	0.96[EUR][1000 genomes]
rs6698886	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701615	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706355	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706359	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74077326	1.00[EUR][1000 genomes]
rs7514916	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs835446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs835902	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9651187	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs706354	AK023382	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57474200-57490200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:57477600-57490200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:57479400-57487000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57481600-57490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:57483200-57494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57483400-57490400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:57483400-57490600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:57483600-57490600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:57484400-57485600	Genic enhancers	Fetal Intestine Small	intestine
10	chr1:57484400-57486000	Enhancers	Fetal Brain Male	brain
11	chr1:57485000-57486000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:57485200-57494800	Weak transcription	Fetal Brain Female	brain
13	chr1:57485400-57489600	Weak transcription	Brain Germinal Matrix	brain
14	chr1:57485400-57490600	Weak transcription	HepG2	liver
15	chr1:57485400-57498000	Weak transcription	Liver	Liver

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