Variant report

Variant	rs11264383
Chromosome Location	chr1:155545346-155545347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155532819..155534394-chr1:155543476..155545822,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10752611	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796943	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10796944	0.81[AMR][1000 genomes]
rs10796945	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10796946	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10796947	0.95[ASN][1000 genomes]
rs10908465	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10908466	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10908467	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10908469	0.82[EUR][1000 genomes]
rs10908470	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10908471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10908479	0.87[EUR][1000 genomes]
rs11264371	0.88[ASN][1000 genomes]
rs11264372	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11264374	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11264375	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11264380	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264381	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11264386	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264387	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264393	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11264397	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11264398	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11582072	0.95[ASN][1000 genomes]
rs12022088	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12025532	0.83[AMR][1000 genomes]
rs12026638	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12028416	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12030596	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12035524	0.82[AMR][1000 genomes]
rs12037824	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12039893	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12040100	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12041534	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12046473	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12047626	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12047756	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12067371	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12079134	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12091730	0.91[AMR][1000 genomes]
rs12093350	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12239100	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12724079	0.89[ASN][1000 genomes]
rs12740629	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12746592	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758945	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1325908	0.86[ASN][1000 genomes]
rs1360554	0.94[ASN][1000 genomes]
rs2048431	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2175391	0.89[EUR][1000 genomes]
rs34124416	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34620961	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs348186	0.85[EUR][1000 genomes]
rs35615695	0.97[ASN][1000 genomes]
rs3738590	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3851912	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3892792	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs475550	0.87[EUR][1000 genomes]
rs4971095	0.91[EUR][1000 genomes]
rs56675301	0.82[AMR][1000 genomes]
rs6427278	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6672128	0.87[EUR][1000 genomes]
rs6684889	0.89[ASN][1000 genomes]
rs6688636	0.95[ASN][1000 genomes]
rs6696888	0.99[ASN][1000 genomes]
rs7411786	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7521594	0.87[EUR][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	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
3	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11264383	GBA	cis	Esophagus Mucosa	GTEx
rs11264383	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs11264383	GBAP1	cis	Artery Tibial	GTEx
rs11264383	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155533400-155549000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:155534200-155547600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155534600-155560400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:155534600-155565800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:155534800-155558200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:155534800-155561800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:155534800-155565600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:155534800-155568400	Weak transcription	Thymus	Thymus
9	chr1:155535000-155560000	Weak transcription	Right Ventricle	heart
10	chr1:155535000-155570400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:155535400-155564000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:155538200-155560000	Weak transcription	Lung	lung
13	chr1:155540200-155547800	Weak transcription	Spleen	Spleen
14	chr1:155540400-155565800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:155541400-155545400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:155541400-155546200	Weak transcription	Left Ventricle	heart
17	chr1:155541400-155560400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:155541400-155561800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:155541400-155569000	Weak transcription	HSMMtube	muscle
20	chr1:155541600-155549400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:155541600-155553600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:155541600-155565600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:155541600-155565600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:155541600-155568400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:155541800-155560200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:155542000-155545400	Weak transcription	HSMM	muscle
27	chr1:155542000-155546600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:155542000-155565600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:155542200-155562800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:155542400-155559800	Weak transcription	Fetal Stomach	stomach
31	chr1:155544800-155545400	Enhancers	GM12878-XiMat	blood
32	chr1:155545000-155560400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:155545200-155545400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:155545200-155545400	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:155545200-155545400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:155545200-155545400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:155545200-155545400	Enhancers	HMEC	breast
38	chr1:155545200-155545400	Weak transcription	NHEK	skin

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