Variant report

Variant	rs12916094
Chromosome Location	chr15:33233614-33233615
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33232993..33235695-chr15:33238081..33239940,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10048025	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10519763	0.92[CHB][hapmap]
rs10519766	0.92[CHB][hapmap]
rs1122090	0.92[CHB][hapmap]
rs11632769	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs11633193	0.81[EUR][1000 genomes]
rs11633201	0.81[JPT][hapmap]
rs11634576	0.91[CHD][hapmap];0.81[JPT][hapmap]
rs11852876	0.83[CHB][hapmap]
rs11855526	0.92[CHB][hapmap]
rs12708498	0.81[JPT][hapmap]
rs12902241	0.81[JPT][hapmap]
rs12904870	0.81[JPT][hapmap]
rs12911648	0.81[CHD][hapmap]
rs12912842	0.92[CHB][hapmap]
rs16960803	0.91[CHB][hapmap]
rs16960807	0.92[CHB][hapmap]
rs16961044	0.92[CHB][hapmap]
rs16961154	0.82[CHB][hapmap]
rs16961611	0.83[CHB][hapmap]
rs2034478	0.92[CHB][hapmap]
rs2034479	0.92[CHB][hapmap]
rs2122436	0.80[JPT][hapmap]
rs2339164	0.81[JPT][hapmap]
rs2339165	0.92[CHB][hapmap]
rs28648586	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28778081	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs347914	0.95[CHD][hapmap];0.81[JPT][hapmap]
rs347915	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs347952	0.95[CHD][hapmap];0.81[JPT][hapmap]
rs3812936	0.83[CHB][hapmap]
rs3829481	0.92[CHB][hapmap]
rs41473744	0.83[CHB][hapmap]
rs43768	0.95[CHD][hapmap];0.81[JPT][hapmap]
rs6494794	0.81[GIH][hapmap];0.81[EUR][1000 genomes]
rs7163428	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7178325	0.81[JPT][hapmap]
rs7180533	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs7182893	0.85[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8026200	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv903980	chr15:33149087-33264201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv568917	chr15:33167171-33304172	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12916094	GABRA5	cis	parietal	SCAN
rs12916094	NDNL2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33216200-33234800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:33226000-33235400	Weak transcription	NHLF	lung
3	chr15:33226600-33245400	Weak transcription	Stomach Mucosa	stomach
4	chr15:33229200-33234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:33229200-33234200	Weak transcription	NHDF-Ad	bronchial
6	chr15:33229200-33234200	Weak transcription	Osteobl	bone
7	chr15:33232800-33234400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:33232800-33263400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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