Variant report

Variant	rs2024591
Chromosome Location	chr1:84329235-84329236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10127737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10465746	0.80[ASN][1000 genomes]
rs10493741	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10493744	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs10874423	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10874424	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10874426	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs11163861	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11163862	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163865	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11163866	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11163867	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11163868	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11163874	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11163875	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11163877	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11163878	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11576870	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11580836	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12070578	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12118434	0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12119275	0.94[CHB][hapmap]
rs12120160	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12121175	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12127266	0.85[ASN][1000 genomes]
rs12133778	0.85[ASN][1000 genomes]
rs12135028	0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12139191	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12140068	0.80[ASN][1000 genomes]
rs12141272	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12145258	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12146038	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12403631	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12407641	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12410617	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12723239	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12730621	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12732697	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12738214	0.81[ASN][1000 genomes]
rs12748268	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12749350	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12757632	0.90[GIH][hapmap];0.89[JPT][hapmap]
rs12758441	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12759527	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap]
rs1324484	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1324486	0.83[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1359331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1475263	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1536166	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1570690	0.81[ASN][1000 genomes]
rs1570691	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17099118	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs17534614	0.82[ASN][1000 genomes]
rs1871924	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1952065	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs1952066	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2147950	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2389617	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2389649	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2477201	0.85[JPT][hapmap]
rs28726372	0.89[ASN][1000 genomes]
rs4258241	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs4907185	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4907186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4907188	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4907189	0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4907191	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs5028806	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs558567	0.85[JPT][hapmap]
rs575633	0.85[JPT][hapmap]
rs598531	0.85[JPT][hapmap]
rs639666	0.85[JPT][hapmap]
rs6576956	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs663136	0.85[JPT][hapmap]
rs6658559	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs6692233	0.82[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6694752	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6699501	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs670284	0.85[JPT][hapmap]
rs6703382	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6703493	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs685472	0.85[JPT][hapmap]
rs686839	0.85[JPT][hapmap]
rs7529293	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550413	0.81[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap]
rs7551787	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs882897	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs942848	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9700285	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs980418	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2024591	DNASE2B	cis	cerebellum	SCAN
rs2024591	PRKACB	cis	lymphoblastoid	seeQTL
rs2024591	LPHN2	cis	parietal	SCAN
rs2024591	NKX1-2	trans	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84326800-84330800	Weak transcription	HSMM	muscle
2	chr1:84326800-84348200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:84326800-84352600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:84327000-84345000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:84327000-84348400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:84327000-84352400	Weak transcription	Aorta	Aorta
7	chr1:84327000-84361800	Weak transcription	Fetal Brain Female	brain
8	chr1:84327000-84375400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:84327200-84348600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:84327200-84349600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:84327200-84351400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:84327400-84345000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:84328200-84354400	Weak transcription	Brain Substantia Nigra	brain
14	chr1:84328400-84329600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:84328600-84330000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:84328800-84344800	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:84329000-84352200	Weak transcription	Brain Angular Gyrus	brain
18	chr1:84329000-84373000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:84329200-84330600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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