Variant report

Variant	rs12140078
Chromosome Location	chr1:223656254-223656255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10157965	0.94[EUR][1000 genomes]
rs11261292	0.94[EUR][1000 genomes]
rs11261293	0.90[EUR][1000 genomes]
rs12123913	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12138605	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12141379	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12141649	0.98[EUR][1000 genomes]
rs4453033	0.94[EUR][1000 genomes]
rs4568823	0.90[EUR][1000 genomes]
rs4636451	0.90[EUR][1000 genomes]
rs57041991	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6661598	0.94[EUR][1000 genomes]
rs6689010	0.94[EUR][1000 genomes]
rs6702233	0.86[EUR][1000 genomes]
rs7414159	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74148031	0.94[EUR][1000 genomes]
rs7531954	0.90[EUR][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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1013538	chr1:223626487-223670776	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223653200-223660800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:223654200-223661000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:223655600-223656400	Enhancers	GM12878-XiMat	blood
4	chr1:223655800-223656800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:223655800-223657200	Enhancers	Placenta	Placenta
6	chr1:223656000-223656600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:223656000-223656600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:223656000-223656600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:223656000-223657000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:223656200-223656400	Bivalent Enhancer	Hela-S3	cervix
11	chr1:223656200-223656800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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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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