Variant report

Variant	rs12189594
Chromosome Location	chr6:14856357-14856358
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs372827	0.88[EUR][1000 genomes]
rs374136	0.95[JPT][hapmap]
rs384291	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs404238	0.89[EUR][1000 genomes]
rs411347	0.94[EUR][1000 genomes]
rs449159	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs452951	0.87[EUR][1000 genomes]
rs4715928	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1017572	chr6:14830510-14906933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12189594	CA4	trans	cerebellum	SCAN
rs12189594	SIRT5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14850000-14857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:14850200-14857200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:14850400-14857200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:14850400-14866200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:14855000-14857000	Weak transcription	Fetal Thymus	thymus
6	chr6:14855600-14861200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:14855600-14864400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:14855800-14856800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:14855800-14857200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:14855800-14857400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:14855800-14857400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:14855800-14857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:14855800-14857400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:14855800-14861200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:14855800-14864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:14856000-14861400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:14856200-14859400	Enhancers	Primary Natural Killer cells fromperipheralblood	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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