Variant report

Variant	rs7182854
Chromosome Location	chr15:73079504-73079505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:73079425-73079666	GM12878	blood:	n/a	n/a
2	BATF	chr15:73079399-73079663	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr15:73079470-73079654	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73078686..73082116-chr15:73085791..73087796,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBS4-1	chr15:73078841-73079934	NONHSAT047128

Variant related genes	Relation type
ADPGK	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11072380	0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11072383	0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11072389	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11856110	0.86[ASN][1000 genomes]
rs12437473	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12439200	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12439473	0.98[ASN][1000 genomes]
rs12591690	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12591728	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12594320	0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12898814	1.00[CEU][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12902361	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12906007	0.93[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12916236	0.97[ASN][1000 genomes]
rs12916448	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1346165	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16957257	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16957297	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2162268	0.87[EUR][1000 genomes]
rs2304598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28397892	0.85[EUR][1000 genomes]
rs28562097	0.94[ASN][1000 genomes]
rs28648660	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28737436	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28801790	0.97[ASN][1000 genomes]
rs28827493	0.98[ASN][1000 genomes]
rs28866048	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34660767	0.97[ASN][1000 genomes]
rs4777541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6495017	0.86[ASN][1000 genomes]
rs6495018	0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap]
rs7162166	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs7170394	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7172397	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7175918	0.89[ASN][1000 genomes]
rs8023358	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs8024644	0.93[ASN][1000 genomes]
rs8026559	0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs8031691	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8036269	0.98[ASN][1000 genomes]

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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7182854	ADPGK	cis	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73077000-73079600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:73077000-73079600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:73077000-73080600	Enhancers	HSMMtube	muscle
4	chr15:73077000-73088800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:73077200-73079600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:73077200-73079800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:73077200-73079800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:73077200-73079800	Enhancers	Brain Substantia Nigra	brain
9	chr15:73077200-73080000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:73077200-73080000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:73077200-73080000	Enhancers	GM12878-XiMat	blood
12	chr15:73077200-73080200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:73077200-73080400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:73077200-73080600	Enhancers	Brain Hippocampus Middle	brain
15	chr15:73077200-73081200	Enhancers	Fetal Brain Male	brain
16	chr15:73077400-73079600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:73077400-73079600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:73077400-73081400	Weak transcription	Spleen	Spleen
19	chr15:73077600-73080000	Enhancers	Brain Cingulate Gyrus	brain
20	chr15:73077800-73080600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:73078200-73081200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:73078400-73079600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:73078400-73080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:73078600-73080000	Enhancers	Brain Anterior Caudate	brain
25	chr15:73078600-73082000	Weak transcription	NHDF-Ad	bronchial
26	chr15:73078600-73082200	Weak transcription	Osteobl	bone
27	chr15:73078600-73082400	Weak transcription	NH-A	brain
28	chr15:73079000-73080000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:73079000-73080600	Enhancers	Fetal Brain Female	brain
30	chr15:73079000-73082400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:73079200-73079800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:73079200-73082200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:73079400-73079600	Enhancers	Stomach Smooth Muscle	stomach
34	chr15:73079400-73079800	Enhancers	HepG2	liver

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