Variant report

Variant	rs11722744
Chromosome Location	chr4:26363640-26363641
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26319239..26325766-chr4:26360124..26364446,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168214	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10805262	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10939110	0.87[ASW][hapmap]
rs10939111	0.93[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11722108	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11726853	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11727213	0.80[EUR][1000 genomes]
rs11727747	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11729843	0.80[AMR][1000 genomes]
rs11737637	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12639629	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs12643747	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648802	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13104136	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13104403	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13108863	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13109703	0.89[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13111856	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13114911	0.93[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13115260	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13116044	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13116873	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118463	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13119840	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13120216	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13125386	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13128014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13129276	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13133397	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13134710	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13135156	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13135696	1.00[YRI][hapmap]
rs13139277	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13139997	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13140860	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13147671	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13152066	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867798	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1877207	0.86[ASW][hapmap];1.00[YRI][hapmap]
rs2095830	0.83[AMR][1000 genomes]
rs2270226	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2725303	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2725304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2725305	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2725309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2725325	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28368332	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3109839	0.88[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3109843	0.96[CEU][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109849	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3113016	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3113019	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35142730	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4289434	0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4536914	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4692531	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4692532	0.96[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56795036	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59191689	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7349722	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7655165	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7656190	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11722744	GBA3	cis	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26323800-26374400	Weak transcription	Lung	lung
2	chr4:26325000-26374200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:26344200-26370800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:26344200-26374200	Weak transcription	Placenta	Placenta
5	chr4:26344800-26368000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:26348000-26374400	Weak transcription	Fetal Stomach	stomach
7	chr4:26351000-26374200	Weak transcription	Right Atrium	heart
8	chr4:26356400-26364800	Weak transcription	Esophagus	oesophagus
9	chr4:26358000-26363800	Weak transcription	NHLF	lung
10	chr4:26358000-26368000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:26358000-26369600	Weak transcription	Adipose Nuclei	Adipose
12	chr4:26358000-26370600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:26358000-26373800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:26358000-26374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:26358000-26374200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:26358000-26374200	Weak transcription	Spleen	Spleen
17	chr4:26358000-26387600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:26358000-26390600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:26358200-26370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:26358400-26369600	Weak transcription	Primary B cells from cord blood	blood
21	chr4:26358800-26367200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:26358800-26368200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:26359000-26367600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:26359000-26368200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:26359000-26369800	Weak transcription	HSMM	muscle
26	chr4:26359800-26371200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:26360200-26364000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:26361400-26363800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:26361400-26365200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:26361400-26369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:26361400-26376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:26361600-26365200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:26361600-26370000	Weak transcription	Ovary	ovary
34	chr4:26361800-26365200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:26362000-26364000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr4:26362000-26364200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:26362000-26364600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr4:26362000-26365200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:26362200-26364600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr4:26362200-26365000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:26362200-26365200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:26362200-26367000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:26362200-26374200	Weak transcription	HSMMtube	muscle
44	chr4:26362400-26364000	Enhancers	Brain Substantia Nigra	brain
45	chr4:26362400-26364400	Enhancers	Brain Hippocampus Middle	brain
46	chr4:26362600-26364200	Enhancers	Brain Anterior Caudate	brain
47	chr4:26362600-26364800	Enhancers	Osteobl	bone
48	chr4:26362600-26365000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:26362600-26365000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr4:26362600-26375000	Weak transcription	Aorta	Aorta

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