Variant report

Variant	rs12812465
Chromosome Location	chr1:222144484-222144485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11830871	0.81[AMR][1000 genomes]
rs12310310	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12313969	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1478305	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2537757	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617124	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2617127	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28879445	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3912114	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4262800	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57232027	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61917628	0.82[ASN][1000 genomes]
rs7132986	0.81[AMR][1000 genomes]
rs7304194	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7304208	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7306816	0.87[AMR][1000 genomes];0.83[ASN][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	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
2	esv3323289	chr1:222144429-222148627	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 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	chr1:222139200-222145000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:222139400-222145200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:222141000-222145800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:222141200-222145000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:222142600-222145000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:222142800-222144600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:222142800-222148000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:222143000-222144800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:222143000-222145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:222143800-222145000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:222143800-222145000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:222143800-222148400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:222144200-222144600	Weak transcription	Hela-S3	cervix
16	chr1:222144400-222147600	Weak transcription	Monocytes-CD14+_RO01746	blood

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Input of quick search could be:

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

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