Variant report

Variant	rs12148348
Chromosome Location	chr15:49396864-49396865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10431775	0.83[EUR][1000 genomes]
rs1048975	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1054307	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs10775139	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11070682	0.94[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[GIH][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11070683	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630937	0.89[ASN][1000 genomes]
rs11633810	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs11637991	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11638215	0.84[CEU][hapmap]
rs11855740	0.84[CEU][hapmap]
rs11858114	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs12438175	0.92[AFR][1000 genomes]
rs12438777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs12440709	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12442679	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12898691	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12902875	0.82[EUR][1000 genomes]
rs16962057	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16962111	0.85[ASN][1000 genomes]
rs2086256	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2127241	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2127242	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2247003	0.88[ASN][1000 genomes]
rs2247517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2289390	0.89[ASN][1000 genomes]
rs2413928	0.91[EUR][1000 genomes]
rs2413931	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2413935	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2457228	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2580926	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2663088	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2663089	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs28676698	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28724568	0.83[EUR][1000 genomes]
rs2899427	0.94[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2899430	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2899431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs3098613	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap]
rs3098619	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.82[YRI][hapmap]
rs3098620	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs3098621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs3105858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs3105861	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3105864	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap]
rs3105866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs3907313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4284578	0.84[CEU][hapmap]
rs4536401	0.84[CEU][hapmap]
rs4774537	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4775795	0.84[CEU][hapmap]
rs481466	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap]
rs489813	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs507054	0.90[ASN][1000 genomes]
rs568726	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs600863	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs604765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[ASN][1000 genomes]
rs612803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs619045	0.81[ASN][1000 genomes]
rs62013266	0.86[EUR][1000 genomes]
rs626295	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap]
rs626855	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs647118	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs6493346	0.84[CEU][hapmap]
rs6493356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs6493357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs679957	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs685172	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs694882	0.84[ASN][1000 genomes]
rs7162602	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7165264	0.84[CEU][hapmap]
rs7166847	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7167402	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs7179301	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8029914	0.84[CEU][hapmap];0.80[TSI][hapmap]
rs8039512	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs877007	0.84[CEU][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12148348	GALK2	Cis_1M	lymphoblastoid	RTeQTL
rs12148348	SLC27A2	cis	parietal	SCAN
rs12148348	SECISBP2L	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49376400-49397800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:49376600-49397600	Weak transcription	NHLF	lung
3	chr15:49381400-49397400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:49381400-49402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:49381600-49398000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:49382600-49402400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:49385600-49403200	Weak transcription	Placenta	Placenta
8	chr15:49386400-49403400	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:49386400-49404200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:49386800-49402600	Weak transcription	Gastric	stomach
11	chr15:49387000-49397400	Weak transcription	Primary T cells from cord blood	blood
12	chr15:49387200-49397600	Weak transcription	HSMMtube	muscle
13	chr15:49387200-49397800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:49387200-49402400	Weak transcription	Spleen	Spleen
15	chr15:49387200-49403000	Weak transcription	Dnd41	blood
16	chr15:49387400-49404200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:49388800-49397400	Weak transcription	K562	blood
18	chr15:49388800-49402400	Weak transcription	Fetal Intestine Small	intestine
19	chr15:49388800-49402400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:49388800-49402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:49388800-49402600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:49388800-49402600	Weak transcription	Left Ventricle	heart
23	chr15:49388800-49402600	Weak transcription	Ovary	ovary
24	chr15:49388800-49402600	Weak transcription	Pancreas	Pancrea
25	chr15:49388800-49402600	Weak transcription	Thymus	Thymus
26	chr15:49388800-49402800	Weak transcription	Lung	lung
27	chr15:49388800-49404400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:49388800-49404600	Weak transcription	Hela-S3	cervix
29	chr15:49388800-49418800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:49388800-49434800	Weak transcription	Small Intestine	intestine
31	chr15:49389600-49404400	Weak transcription	HepG2	liver
32	chr15:49390400-49403000	Weak transcription	Aorta	Aorta
33	chr15:49390800-49403000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:49391200-49398000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:49391200-49402400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:49391400-49397400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:49391400-49402400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:49391400-49402600	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:49391400-49404200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:49391600-49397800	Weak transcription	NHDF-Ad	bronchial
41	chr15:49391600-49402400	Weak transcription	Esophagus	oesophagus
42	chr15:49391600-49402600	Weak transcription	Fetal Stomach	stomach
43	chr15:49391800-49397600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:49391800-49403400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:49392000-49397000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:49392000-49397400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:49392000-49402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr15:49392000-49403200	Weak transcription	Fetal Thymus	thymus
49	chr15:49392200-49402600	Weak transcription	Psoas Muscle	Psoas
50	chr15:49392400-49403000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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