Variant report

Variant	rs8031691
Chromosome Location	chr15:73064927-73064928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73063311..73065020-chr15:73065079..73066716,2	K562	blood:
2	chr15:73064606..73067353-chr15:73384208..73386751,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11072380	0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11072383	0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[MKK][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs11072389	1.00[ASN][1000 genomes]
rs11856110	0.88[ASN][1000 genomes]
rs12437473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439200	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs12439473	1.00[ASN][1000 genomes]
rs12591690	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591728	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12594320	0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12898814	1.00[CEU][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12902361	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12906007	0.93[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.89[ASN][1000 genomes]
rs12916236	0.99[ASN][1000 genomes]
rs12916448	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1346165	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16957257	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16957297	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2162268	0.89[EUR][1000 genomes]
rs2304598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.99[ASN][1000 genomes]
rs28397892	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28562097	0.96[ASN][1000 genomes]
rs28648660	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28737436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28801790	0.99[ASN][1000 genomes]
rs28827493	1.00[ASN][1000 genomes]
rs28866048	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33923961	0.81[EUR][1000 genomes]
rs34660767	0.99[ASN][1000 genomes]
rs34940604	0.81[EUR][1000 genomes]
rs4777541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6495017	0.88[ASN][1000 genomes]
rs6495018	0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7162166	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs7170394	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs7172397	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs7175918	0.91[ASN][1000 genomes]
rs7182854	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]
rs8023358	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.94[MKK][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs8024644	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8026286	0.80[AMR][1000 genomes]
rs8026559	0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs8036269	1.00[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
rs8031691	ADPGK	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73041800-73071000	Strong transcription	Liver	Liver
2	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
3	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:73045400-73066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:73045600-73067400	Strong transcription	Placenta	Placenta
8	chr15:73046800-73067600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:73055400-73066600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:73057200-73069600	Strong transcription	Hela-S3	cervix
12	chr15:73057800-73067800	Weak transcription	Fetal Heart	heart
13	chr15:73058400-73065000	Strong transcription	Osteobl	bone
14	chr15:73058400-73065200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:73058400-73065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:73058400-73069000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:73058600-73067400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:73058800-73065600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:73059200-73066800	Weak transcription	Fetal Brain Male	brain
20	chr15:73059200-73069600	Strong transcription	HSMM	muscle
21	chr15:73059800-73066600	Strong transcription	Adipose Nuclei	Adipose
22	chr15:73060000-73065400	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr15:73060000-73067400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:73060000-73074000	Weak transcription	Stomach Mucosa	stomach
25	chr15:73060000-73075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:73060200-73065600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:73060200-73067200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:73060200-73067200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:73060200-73067400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:73060200-73067400	Strong transcription	NH-A	brain
31	chr15:73060200-73067800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr15:73060400-73066000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr15:73060400-73067200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:73060400-73067400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:73060400-73067600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:73060400-73068200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:73060400-73070800	Strong transcription	Dnd41	blood
39	chr15:73060400-73073200	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:73060600-73067000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:73060600-73067200	Strong transcription	Primary T cells from cord blood	blood
42	chr15:73060600-73067400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:73060600-73068000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:73060600-73068200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:73060600-73072000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:73060800-73066000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr15:73060800-73066000	Strong transcription	Primary B cells from cord blood	blood
48	chr15:73060800-73067200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:73060800-73067200	Strong transcription	Brain Substantia Nigra	brain
50	chr15:73061000-73065000	Strong transcription	HMEC	breast

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