Variant report

Variant	rs11264363
Chromosome Location	chr1:155318308-155318309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10752611	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10796943	1.00[CHB][hapmap]
rs10796945	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs10908463	0.95[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap]
rs10908465	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs10908469	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11264359	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap]
rs11264361	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs11264362	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264366	0.92[ASN][1000 genomes]
rs11264367	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11264369	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11264371	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs11264372	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs11264375	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs12021631	0.95[ASN][1000 genomes]
rs12024696	0.97[ASN][1000 genomes]
rs12025532	0.80[ASN][1000 genomes]
rs12026638	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12041534	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs12049455	0.95[ASN][1000 genomes]
rs12079134	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12081067	0.86[ASN][1000 genomes]
rs12131079	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12143948	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs12239114	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.96[ASN][1000 genomes]
rs12724079	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12746592	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs1325908	0.83[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes]
rs1360554	0.83[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs1886905	0.83[ASW][hapmap];0.81[CEU][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs2025669	0.86[ASN][1000 genomes]
rs2297480	0.84[CHB][hapmap]
rs35615695	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs5005770	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56675301	0.82[ASN][1000 genomes]
rs6677385	0.83[ASN][1000 genomes]
rs6684889	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap]
rs6688636	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs6692183	0.83[ASN][1000 genomes]
rs66923802	0.93[ASN][1000 genomes]
rs6696888	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs71517782	0.92[ASN][1000 genomes]
rs7416976	0.86[ASN][1000 genomes]
rs7556102	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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 lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
4	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11264363	GBAP1	cis	Artery Tibial	GTEx
rs11264363	GBA	cis	Esophagus Mucosa	GTEx
rs11264363	ADAM15	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155296000-155334400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:155296200-155349400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:155296600-155348200	Strong transcription	Fetal Stomach	stomach
4	chr1:155296800-155330000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:155297000-155330800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:155297200-155322600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:155297800-155357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:155298200-155320800	Strong transcription	Fetal Thymus	thymus
9	chr1:155299600-155330200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:155299600-155341200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:155299600-155353600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:155301200-155332200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:155301800-155334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:155302400-155341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:155302600-155330800	Strong transcription	Placenta	Placenta
16	chr1:155303000-155322000	Strong transcription	Thymus	Thymus
17	chr1:155303000-155328000	Strong transcription	Primary T cells from cord blood	blood
18	chr1:155303000-155330400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr1:155303000-155331200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:155303000-155332200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:155303000-155334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:155303000-155341200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:155303000-155352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:155303200-155330800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:155303200-155341000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:155303400-155332600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:155303600-155332200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:155304200-155332000	Strong transcription	Dnd41	blood
29	chr1:155304400-155330200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:155304400-155330800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:155304400-155331000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:155304400-155337200	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:155304600-155319400	Strong transcription	Primary B cells from cord blood	blood
34	chr1:155304600-155326000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:155304600-155330200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:155304600-155331800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:155304600-155332000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:155306000-155319400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:155306000-155319400	Strong transcription	Brain Substantia Nigra	brain
40	chr1:155306000-155324200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:155306000-155336800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:155306000-155348200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:155306200-155330200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:155306200-155330800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:155306200-155341200	Strong transcription	Liver	Liver
46	chr1:155306200-155375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:155306400-155329800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:155306400-155330800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr1:155306400-155334600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:155306600-155324800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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