Variant report

Variant	rs11264345
Chromosome Location	chr1:155213124-155213125
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155212719-155215270	PFSK-1	brain:	n/a	n/a
2	MTA3	chr1:155213017-155215187	GM12878	blood:	n/a	n/a
3	RCOR1	chr1:155212876-155215325	IMR90	lung:	n/a	n/a
4	POLR2A	chr1:155212595-155215381	SK-N-MC	brain:	n/a	n/a
5	SPI1	chr1:155213007-155213287	GM12891	blood:	n/a	n/a
6	SPI1	chr1:155213097-155213296	K562	blood:	n/a	n/a
7	MYC	chr1:155213077-155213131	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155209079..155212795-chr1:155212935..155216540,4	MCF-7	breast:
2	chr1:155211622..155214565-chr1:155278095..155280494,4	MCF-7	breast:
3	chr1:155212931..155218657-chr1:155240962..155244485,5	MCF-7	breast:
4	chr1:155174858..155180302-chr1:155209102..155215747,8	MCF-7	breast:
5	chr1:155176431..155180791-chr1:155209413..155214573,7	MCF-7	breast:
6	chr1:155211806..155213841-chr1:155274140..155275790,2	K562	blood:
7	chr1:155212049..155215843-chr1:155293307..155296856,5	MCF-7	breast:
8	chr1:155212781..155214911-chr1:155269991..155272165,2	K562	blood:
9	chr1:155213102..155215658-chr1:155292526..155295305,4	MCF-7	breast:
10	chr1:155213005..155216511-chr1:155292470..155296220,4	K562	blood:
11	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
12	chr1:155210404..155213133-chr1:155222950..155225276,2	MCF-7	breast:
13	chr1:155211497..155213419-chr17:60004081..60005775,2	MCF-7	breast:
14	chr1:155195600..155203152-chr1:155209955..155216515,9	MCF-7	breast:
15	chr1:155209487..155212728-chr1:155212760..155217156,9	MCF-7	breast:
16	chr1:155195599..155199380-chr1:155211353..155216703,7	MCF-7	breast:
17	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
18	chr1:155193188..155195403-chr1:155211959..155214156,2	K562	blood:
19	chr1:155209727..155212678-chr1:155212773..155217086,5	K562	blood:
20	chr1:155163241..155165710-chr1:155212950..155214666,2	MCF-7	breast:
21	chr1:155211690..155216212-chr1:155231766..155235735,5	MCF-7	breast:

No data

Variant related genes	Relation type
GBA	TF binding region
ENSG00000143627	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000236675	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000116521	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1045253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1046188	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1052176	0.82[ASN][1000 genomes]
rs1052177	0.82[ASN][1000 genomes]
rs1076556	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1078699	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10796940	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10908459	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11264343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11264346	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11264348	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11264349	0.83[ASN][1000 genomes]
rs11264352	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11264353	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11264359	0.85[CHB][hapmap]
rs1142287	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11577338	0.86[ASN][1000 genomes]
rs12026638	0.84[CHB][hapmap]
rs12034326	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042020	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12044063	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12049375	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12406363	0.84[ASN][1000 genomes]
rs12407919	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12563994	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12723761	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12724449	0.85[ASN][1000 genomes]
rs12748155	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12749306	0.85[ASN][1000 genomes]
rs1546818	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1800438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1807042	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2009578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071053	0.82[ASN][1000 genomes]
rs2072647	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2075566	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2075569	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236863	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2236864	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2242576	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2242577	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2297480	0.90[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs2361536	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2361543	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28373017	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28595322	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3754485	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768566	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3814318	0.80[ASN][1000 genomes]
rs3814319	0.82[ASN][1000 genomes]
rs4043	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4620533	0.82[ASN][1000 genomes]
rs56310840	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59352002	0.82[AMR][1000 genomes]
rs734073	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs734074	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs741756	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7520184	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7543234	0.80[AMR][1000 genomes]
rs7549276	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7554780	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs762488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8847	0.82[ASN][1000 genomes]
rs932972	0.82[ASN][1000 genomes]
rs9628662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9729564	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	434 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
12	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
13	nsv8480	chr1:155206335-155214536	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
14	nsv947198	chr1:155206997-155226440	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs11264345	GBAP1	cis	parietal	SCAN
rs11264345	GBA	cis	Esophagus Mucosa	GTEx
rs11264345	GBAP1	cis	Artery Tibial	GTEx
rs11264345	EFNA1	cis	cerebellum	SCAN
rs11264345	GBAP1	cis	Thyroid	GTEx
rs11264345	AK056250	trans	multi-tissue	Pritchard
rs11264345	RPRD2	cis	cerebellum	SCAN
rs11264345	CRNN	cis	cerebellum	SCAN
rs11264345	RP11-263K19.4	cis	Whole Blood	GTEx
rs11264345	GBA	cis	lymphoblastoid	seeQTL
rs11264345	ADAM15	cis	multi-tissue	Pritchard
rs11264345	GBAP1	cis	Esophagus Mucosa	GTEx
rs11264345	THBS3	cis	Whole Blood	GTEx
rs11264345	SPRR4	cis	parietal	SCAN
rs11264345	THEM5	cis	parietal	SCAN
rs11264345	GBAP1	cis	cerebellum	SCAN
rs11264345	SNORA42	cis	parietal	SCAN
rs11264345	THBS3	cis	lung	GTEx
rs11264345	GBA	cis	Whole Blood	GTEx
rs11264345	LAMTOR2	cis	lymphoblastoid	seeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155210000-155213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:155210600-155213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:155211000-155213400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155211000-155214200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:155211200-155213200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:155211200-155213200	Enhancers	Primary T cells from cord blood	blood
7	chr1:155211200-155213200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:155211200-155213200	Weak transcription	Right Atrium	heart
9	chr1:155211200-155213400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:155211200-155213400	Enhancers	Placenta	Placenta
11	chr1:155211200-155213600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:155211200-155213600	Weak transcription	Ovary	ovary
13	chr1:155211200-155213800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:155211400-155213200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:155211400-155213200	Weak transcription	Aorta	Aorta
16	chr1:155211400-155213200	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:155211400-155213200	Weak transcription	Fetal Kidney	kidney
18	chr1:155211400-155213200	Weak transcription	Psoas Muscle	Psoas
19	chr1:155211400-155213200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:155211400-155213400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:155211600-155213200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:155211600-155213200	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:155211600-155213200	Enhancers	Colonic Mucosa	Colon
24	chr1:155211600-155213200	Enhancers	Fetal Brain Male	brain
25	chr1:155211600-155213200	Weak transcription	Lung	lung
26	chr1:155211600-155213200	Weak transcription	Right Ventricle	heart
27	chr1:155211600-155213600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:155211800-155213200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:155211800-155213200	Enhancers	Primary B cells from cord blood	blood
30	chr1:155211800-155213200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:155211800-155214600	Weak transcription	HepG2	liver
32	chr1:155212000-155213200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:155212000-155213200	Weak transcription	Esophagus	oesophagus
34	chr1:155212000-155213200	Weak transcription	Gastric	stomach
35	chr1:155212000-155213200	Weak transcription	Left Ventricle	heart
36	chr1:155212000-155213200	Weak transcription	Pancreas	Pancrea
37	chr1:155212200-155213200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:155212600-155213200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:155212600-155213400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:155212600-155213400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:155212600-155213400	Enhancers	Liver	Liver
42	chr1:155212600-155213400	Flanking Active TSS	K562	blood
43	chr1:155212600-155213400	Flanking Active TSS	NHDF-Ad	bronchial
44	chr1:155212600-155213600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:155212600-155213600	Flanking Active TSS	Dnd41	blood
46	chr1:155212600-155214000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:155212600-155214000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:155212800-155213200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:155212800-155213200	Enhancers	Brain Substantia Nigra	brain
50	chr1:155212800-155213200	Enhancers	Skeletal Muscle Female	skeletal muscle

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