Variant report

Variant	rs4142210
Chromosome Location	chr1:70242585-70242586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1340771	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1340772	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1361493	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4650307	0.97[ASN][1000 genomes]
rs6424593	0.81[AMR][1000 genomes];0.97[ASN][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv461784	chr1:70231535-70306245	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv546452	chr1:70231535-70306245	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70219800-70245200	Weak transcription	Fetal Brain Female	brain
2	chr1:70220400-70246800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:70241400-70243600	Enhancers	Stomach Mucosa	stomach
4	chr1:70241600-70243000	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:70242000-70244600	Enhancers	Brain Anterior Caudate	brain
6	chr1:70242400-70242600	Enhancers	Fetal Brain Male	brain
7	chr1:70242400-70243000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:70242400-70243800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:70242400-70244200	Enhancers	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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