Variant report

Variant	rs11264365
Chromosome Location	chr1:155332994-155332995
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	chr1:155332612..155335852-chr1:155337057..155340155,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11264366	0.83[EUR][1000 genomes]
rs11264367	0.83[EUR][1000 genomes]
rs5005770	0.80[EUR][1000 genomes]
rs66923802	0.83[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	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
rs11264365	GBA	cis	Esophagus Mucosa	GTEx
rs11264365	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs11264365	FDPS	Cis_1M	lymphoblastoid	RTeQTL

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	chr1:155297800-155357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:155299600-155341200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:155299600-155353600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:155301800-155334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:155302400-155341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:155303000-155334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:155303000-155341200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:155303000-155352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:155303200-155341000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:155304400-155337200	Strong transcription	Fetal Muscle Leg	muscle
14	chr1:155306000-155336800	Strong transcription	Adipose Nuclei	Adipose
15	chr1:155306000-155348200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:155306200-155341200	Strong transcription	Liver	Liver
17	chr1:155306200-155375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:155306400-155334600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:155310000-155347800	Strong transcription	Fetal Intestine Small	intestine
20	chr1:155312400-155407400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:155313000-155348400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:155317600-155344000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:155317800-155339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:155317800-155340000	Weak transcription	Fetal Heart	heart
25	chr1:155318400-155340000	Weak transcription	Fetal Brain Male	brain
26	chr1:155321800-155334000	Strong transcription	Osteobl	bone
27	chr1:155322400-155339800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:155323400-155339800	Weak transcription	Small Intestine	intestine
29	chr1:155323800-155349400	Strong transcription	Fetal Thymus	thymus
30	chr1:155324000-155339800	Weak transcription	HUVEC	blood vessel
31	chr1:155324600-155338000	Weak transcription	HMEC	breast
32	chr1:155324600-155339000	Weak transcription	Fetal Kidney	kidney
33	chr1:155325400-155339400	Weak transcription	HSMM	muscle
34	chr1:155325600-155344400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:155325800-155340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:155326400-155336600	Strong transcription	Lung	lung
37	chr1:155327600-155338600	Weak transcription	Hela-S3	cervix
38	chr1:155327600-155339800	Weak transcription	K562	blood
39	chr1:155327800-155339400	Weak transcription	NHDF-Ad	bronchial
40	chr1:155327800-155347200	Weak transcription	Psoas Muscle	Psoas
41	chr1:155328000-155337400	Weak transcription	NH-A	brain
42	chr1:155329400-155339400	Weak transcription	Colonic Mucosa	Colon
43	chr1:155329800-155335400	Weak transcription	GM12878-XiMat	blood
44	chr1:155329800-155338000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:155330000-155333600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:155330000-155333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:155330000-155335400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:155330000-155339600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:155330000-155339600	Weak transcription	Gastric	stomach
50	chr1:155330000-155339800	Weak transcription	Esophagus	oesophagus

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