Variant report

Variant	rs11264358
Chromosome Location	chr1:155280164-155280165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155245586..155250751-chr1:155275814..155280484,11	K562	blood:
2	chr1:155240186..155244594-chr1:155276068..155280700,10	MCF-7	breast:
3	chr1:155245586..155248343-chr1:155278550..155280734,4	K562	blood:
4	chr1:155211622..155214565-chr1:155278095..155280494,4	MCF-7	breast:
5	chr1:155161598..155164529-chr1:155278690..155280381,2	MCF-7	breast:
6	chr1:155228693..155233633-chr1:155276892..155283389,6	K562	blood:
7	chr1:155245052..155250020-chr1:155276306..155280611,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185499	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000177628	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1052176	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1052177	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10796941	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10908461	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10908462	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10908463	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11264349	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11264352	0.80[EUR][1000 genomes]
rs11264353	0.80[EUR][1000 genomes]
rs11264355	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11264357	0.83[EUR][1000 genomes]
rs11264359	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264360	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11264361	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12032720	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12044063	0.85[EUR][1000 genomes]
rs12049375	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12067675	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12724449	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12749306	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2071053	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2297480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020781	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3814318	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3814319	0.83[ASN][1000 genomes]
rs4620533	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4971072	0.98[ASN][1000 genomes]
rs6672284	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520184	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7524950	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7534795	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7549276	0.80[EUR][1000 genomes]
rs7554780	0.81[EUR][1000 genomes]
rs8177968	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8847	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs932972	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11264358	GBA	cis	Esophagus Mucosa	GTEx
rs11264358	PKLR	cis	Nerve Tibial	GTEx
rs11264358	THBS3	cis	Whole Blood	GTEx
rs11264358	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs11264358	GBAP1	cis	Artery Tibial	GTEx
rs11264358	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155277400-155281000	Active TSS	HSMMtube	muscle
2	chr1:155277600-155280200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:155278000-155280200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:155278000-155280400	Active TSS	GM12878-XiMat	blood
5	chr1:155278000-155280400	Active TSS	NHDF-Ad	bronchial
6	chr1:155278400-155283600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:155278800-155280200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:155278800-155280200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:155279200-155280200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:155279200-155280200	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr1:155279200-155280200	Flanking Active TSS	Fetal Brain Male	brain
12	chr1:155279200-155280400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr1:155279200-155281400	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr1:155279200-155290400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:155279400-155280200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:155279400-155280200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:155279400-155280200	Flanking Active TSS	Right Ventricle	heart
18	chr1:155279400-155280600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:155279400-155281400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
20	chr1:155279400-155282000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:155279400-155282200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:155279400-155282400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:155279400-155283400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:155279600-155280200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:155279600-155280200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:155279600-155280200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:155279600-155280200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:155279600-155280400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:155279600-155280600	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:155279600-155281600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:155279600-155284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:155279800-155280200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:155279800-155280200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:155279800-155280200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:155279800-155280200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:155279800-155280200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:155279800-155280200	Flanking Active TSS	Stomach Mucosa	stomach
38	chr1:155279800-155280200	Enhancers	Thymus	Thymus
39	chr1:155279800-155280200	Flanking Active TSS	HSMM	muscle
40	chr1:155279800-155280200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:155279800-155280400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:155279800-155280400	Weak transcription	Primary T cells from cord blood	blood
43	chr1:155279800-155280400	Enhancers	Spleen	Spleen
44	chr1:155279800-155280600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr1:155279800-155280600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:155279800-155280600	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
47	chr1:155279800-155280800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:155279800-155280800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:155279800-155280800	Enhancers	Small Intestine	intestine
50	chr1:155279800-155280800	Transcr. at gene 5' and 3'	K562	blood

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