Variant report

Variant	rs3113016
Chromosome Location	chr4:26410242-26410243
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10805262	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10939111	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11722108	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11722744	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]
rs11726853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11727213	0.84[EUR][1000 genomes]
rs11727747	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11729843	0.82[EUR][1000 genomes]
rs11737637	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12639629	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[EUR][1000 genomes]
rs12643747	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12648802	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13104136	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13104403	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13108863	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13109703	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13111856	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13114911	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13115260	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13116044	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13116873	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13118463	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13119840	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13120216	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13125386	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13128014	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13129276	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13133397	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13134710	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13135156	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13139277	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13139997	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13140860	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13147671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152066	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16867798	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2095830	0.82[EUR][1000 genomes]
rs2270226	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2725303	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725304	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2725305	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]
rs2725309	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2788864	0.83[ASW][hapmap]
rs28368332	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3109839	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3109843	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3109849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113019	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35142730	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3762930	0.86[YRI][hapmap]
rs4289434	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4536914	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4692531	0.88[EUR][1000 genomes]
rs4692532	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56795036	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59191689	0.85[EUR][1000 genomes]
rs7349722	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7656190	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7693785	0.81[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3113016	GBA3	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26375200-26439200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:26381600-26439800	Weak transcription	Spleen	Spleen
3	chr4:26387200-26436000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:26399800-26437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:26402800-26414600	Weak transcription	Pancreas	Pancrea
6	chr4:26403000-26411600	Weak transcription	Fetal Brain Male	brain
7	chr4:26403000-26424800	Weak transcription	Fetal Brain Female	brain
8	chr4:26403200-26411600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:26404400-26414600	Weak transcription	Gastric	stomach
10	chr4:26404400-26436000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:26404600-26413800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:26404600-26418000	Weak transcription	Small Intestine	intestine
13	chr4:26406800-26411800	Weak transcription	Brain Angular Gyrus	brain
14	chr4:26407000-26414600	Weak transcription	Stomach Mucosa	stomach
15	chr4:26407800-26412000	Strong transcription	HSMM	muscle
16	chr4:26408000-26439000	Weak transcription	Hela-S3	cervix
17	chr4:26408200-26410600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr4:26408200-26411600	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:26408400-26410600	Weak transcription	Colonic Mucosa	Colon
20	chr4:26408400-26410800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:26408400-26411200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:26408400-26413800	Weak transcription	Psoas Muscle	Psoas
23	chr4:26408400-26414000	Weak transcription	Left Ventricle	heart
24	chr4:26408400-26422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:26408400-26427000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:26408400-26428400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:26408400-26431000	Weak transcription	Fetal Kidney	kidney
28	chr4:26408400-26431400	Weak transcription	Esophagus	oesophagus
29	chr4:26408400-26442000	Weak transcription	Aorta	Aorta
30	chr4:26408600-26411600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:26408600-26411600	Weak transcription	Brain Anterior Caudate	brain
32	chr4:26408600-26411600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:26408600-26411800	Weak transcription	Brain Substantia Nigra	brain
34	chr4:26408600-26412200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:26408600-26412200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:26408600-26413600	Weak transcription	Fetal Intestine Small	intestine
37	chr4:26408600-26413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:26408600-26413800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:26408600-26413800	Weak transcription	Ovary	ovary
40	chr4:26408600-26414000	Weak transcription	Fetal Lung	lung
41	chr4:26408600-26414200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:26408600-26414200	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:26408600-26414400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:26408600-26414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:26408600-26414400	Weak transcription	Fetal Stomach	stomach
46	chr4:26408600-26414600	Weak transcription	Lung	lung
47	chr4:26408600-26416400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:26408600-26417400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:26408600-26418000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:26408600-26422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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