Variant report

Variant	rs12120034
Chromosome Location	chr1:222142975-222142976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10218478	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11118902	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12024555	0.80[EUR][1000 genomes]
rs12123928	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12124556	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12137323	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12140498	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12140529	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13375176	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17011141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17011146	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72740077	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7520544	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs949618	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12120034	RP11-815M8.1	cis	lung	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222138200-222146000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:222139000-222152200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:222139200-222143600	Weak transcription	Stomach Mucosa	stomach
4	chr1:222139200-222145000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:222139400-222145200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:222141000-222145800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:222141200-222145000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:222141600-222143800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
9	chr1:222142200-222143000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:222142200-222144200	Enhancers	Hela-S3	cervix
11	chr1:222142400-222143200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:222142400-222143200	Enhancers	HSMM	muscle
13	chr1:222142400-222143800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
14	chr1:222142600-222143000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:222142600-222143800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:222142600-222145000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:222142800-222144400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:222142800-222144600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:222142800-222148000	Weak transcription	Muscle Satellite Cultured Cells	--

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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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