Variant report

Variant	rs556946
Chromosome Location	chr1:175838636-175838637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16849335	1.00[EUR][1000 genomes]
rs4652136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474868	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs506265	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551529	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs555060	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv522255	chr1:175827683-175849898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175831600-175840000	Enhancers	Brain Hippocampus Middle	brain
2	chr1:175831600-175842000	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr1:175834600-175839000	Enhancers	Brain Germinal Matrix	brain
4	chr1:175835000-175841600	Weak transcription	Fetal Lung	lung
5	chr1:175835600-175840200	Weak transcription	Fetal Heart	heart
6	chr1:175835600-175848200	Weak transcription	Aorta	Aorta
7	chr1:175836000-175839600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:175836000-175841800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:175836000-175845400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:175837400-175839800	Enhancers	Brain Anterior Caudate	brain
11	chr1:175837400-175843200	Enhancers	Brain Substantia Nigra	brain
12	chr1:175837800-175838800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:175837800-175839000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:175838000-175841600	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:175838000-175842000	Enhancers	Brain Angular Gyrus	brain
16	chr1:175838600-175839800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:175838600-175845600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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

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