Variant report

Variant	rs12318030
Chromosome Location	chr12:45196005-45196006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10128943	1.00[YRI][hapmap]
rs11182663	0.83[YRI][hapmap]
rs11182696	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319039	0.86[AFR][1000 genomes]
rs12322873	0.86[ASW][hapmap]
rs7137523	1.00[YRI][hapmap]
rs7973832	0.83[YRI][hapmap]
rs9971819	1.00[ASW][hapmap];0.83[YRI][hapmap]

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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12318030	MUC13	trans	lymphoblastoid	seeQTL
rs12318030	FAM78B	trans	lymphoblastoid	seeQTL
rs12318030	FAM118A	trans	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45151800-45209200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:45157000-45205600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45173200-45210200	Weak transcription	Fetal Brain Female	brain
4	chr12:45174600-45205600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:45183200-45199600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45188400-45197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:45189400-45205800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:45191200-45207800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:45194600-45197200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:45196000-45197800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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