Variant report

Variant	rs2725305
Chromosome Location	chr4:26372354-26372355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26370806..26373086-chr4:26374915..26376898,2	K562	blood:
2	chr4:26361445..26363354-chr4:26371481..26373196,2	K562	blood:
3	chr4:26321136..26324041-chr4:26372058..26375413,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168214	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10805262	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10939111	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11722108	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11722744	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]
rs11726853	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727747	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11737637	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12639629	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs12643747	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12648802	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13104136	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13104403	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13108863	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13109703	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13111856	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13114911	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13115260	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13116044	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13116873	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13118463	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13119840	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13120216	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13125386	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13128014	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13128399	0.86[YRI][hapmap]
rs13129276	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13133397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13134710	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13135156	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13139277	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13139997	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13140860	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13147671	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13152066	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867798	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2270226	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2725304	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2725309	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725325	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28368332	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109839	0.88[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3109843	0.96[CEU][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3109849	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3113016	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3113019	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35142730	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3762930	0.96[YRI][hapmap]
rs4289434	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4536914	0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4692531	0.94[EUR][1000 genomes]
rs4692532	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56795036	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7349722	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7655165	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7656190	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2725305	GBA3	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

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	chr4:26344200-26374200	Weak transcription	Placenta	Placenta
4	chr4:26348000-26374400	Weak transcription	Fetal Stomach	stomach
5	chr4:26351000-26374200	Weak transcription	Right Atrium	heart
6	chr4:26358000-26373800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:26358000-26374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:26358000-26374200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:26358000-26374200	Weak transcription	Spleen	Spleen
10	chr4:26358000-26387600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:26358000-26390600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:26361400-26376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:26362200-26374200	Weak transcription	HSMMtube	muscle
14	chr4:26362600-26375000	Weak transcription	Aorta	Aorta
15	chr4:26362800-26374200	Weak transcription	Fetal Thymus	thymus
16	chr4:26362800-26374200	Weak transcription	Left Ventricle	heart
17	chr4:26362800-26374200	Weak transcription	Right Ventricle	heart
18	chr4:26364000-26374000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:26364000-26374200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:26364200-26373400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:26364200-26374000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:26364600-26373200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:26365200-26374200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:26365200-26374400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:26365800-26374000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:26367200-26373200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:26367200-26374200	Weak transcription	HUVEC	blood vessel
28	chr4:26367600-26373400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:26367600-26373800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:26367600-26373800	Weak transcription	Fetal Kidney	kidney
31	chr4:26367800-26373800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:26367800-26374200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:26367800-26374200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:26369000-26374200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:26369000-26374400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:26369000-26374400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:26369200-26373800	Weak transcription	Fetal Intestine Small	intestine
38	chr4:26369200-26374200	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:26369200-26389000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:26369600-26372400	Enhancers	Brain Angular Gyrus	brain
41	chr4:26369600-26372400	Enhancers	Brain Anterior Caudate	brain
42	chr4:26369600-26372400	Enhancers	Brain Hippocampus Middle	brain
43	chr4:26370000-26373200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:26370200-26372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:26370200-26374200	Weak transcription	Adipose Nuclei	Adipose
46	chr4:26370400-26373200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:26370400-26373400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:26370400-26373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr4:26370400-26373800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:26370400-26373800	Weak transcription	GM12878-XiMat	blood

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