Variant report

Variant	rs1445578
Chromosome Location	chr1:67000103-67000104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10493408	0.92[ASN][1000 genomes]
rs10493411	0.87[CEU][hapmap]
rs10789211	0.81[TSI][hapmap]
rs11208896	0.92[ASN][1000 genomes]
rs11208898	0.91[ASN][1000 genomes]
rs11208900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11208901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11208902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12022565	0.92[ASN][1000 genomes]
rs12025668	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12039282	0.81[TSI][hapmap]
rs12040232	0.92[ASN][1000 genomes]
rs12041930	0.81[TSI][hapmap]
rs12043594	0.92[ASN][1000 genomes]
rs12046904	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12048885	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12565798	0.81[EUR][1000 genomes]
rs12567898	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12568801	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1338196	0.91[ASN][1000 genomes]
rs1338199	0.92[ASN][1000 genomes]
rs1338201	0.90[ASN][1000 genomes]
rs1338202	0.92[ASN][1000 genomes]
rs1338203	0.92[ASN][1000 genomes]
rs1338206	0.92[ASN][1000 genomes]
rs1338207	0.81[CEU][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.92[ASN][1000 genomes]
rs1445579	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17129039	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17129041	0.93[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17129043	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17129062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17129064	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17129065	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4655614	0.92[ASN][1000 genomes]
rs4655616	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs57941297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6588209	0.81[TSI][hapmap]
rs6664942	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.92[ASN][1000 genomes]
rs6665299	0.92[ASN][1000 genomes]
rs6689119	0.81[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.92[ASN][1000 genomes]
rs6689313	0.81[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.92[ASN][1000 genomes]
rs6693644	0.92[ASN][1000 genomes]
rs6697068	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6699123	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699568	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72916320	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72934129	0.92[ASN][1000 genomes]
rs72934131	0.92[ASN][1000 genomes]
rs72934142	0.92[ASN][1000 genomes]
rs72934143	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72934153	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7526812	0.81[TSI][hapmap]
rs7532400	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7532598	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7532613	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7533806	0.92[ASN][1000 genomes]
rs7533837	0.92[ASN][1000 genomes]
rs7544247	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7544505	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7549881	0.92[ASN][1000 genomes]
rs7551301	0.81[TSI][hapmap]
rs967324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1445578	DIRAS3	cis	cerebellum	SCAN
rs1445578	PIN1L	cis	cerebellum	SCAN
rs1445578	SGIP1	cis	cerebellum	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:66998200-67000200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:66998200-67000200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:66998200-67000400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:66998200-67000400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:66998200-67000400	Flanking Active TSS	HUVEC	blood vessel
6	chr1:66998200-67001000	Active TSS	Fetal Brain Female	brain
7	chr1:66998400-67000200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:66998400-67000200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:66998400-67000400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:66998400-67000400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:66998400-67000400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
12	chr1:66998400-67001800	Active TSS	Brain Anterior Caudate	brain
13	chr1:66998400-67001800	Active TSS	Brain Cingulate Gyrus	brain
14	chr1:66998400-67002000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:66998400-67003200	Active TSS	Aorta	Aorta
16	chr1:66998600-67000200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:66998600-67000200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr1:66998600-67000400	Bivalent Enhancer	Liver	Liver
19	chr1:66998600-67002000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:66998600-67002400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:66998800-67000200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:66998800-67000200	Active TSS	Colonic Mucosa	Colon
23	chr1:66998800-67000200	Active TSS	Colon Smooth Muscle	Colon
24	chr1:66998800-67000200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
25	chr1:66998800-67000200	Active TSS	Rectal Smooth Muscle	rectum
26	chr1:66998800-67000200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:66998800-67000400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:66998800-67001200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:66998800-67001200	Active TSS	Fetal Heart	heart
30	chr1:66998800-67001400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr1:66998800-67001600	Active TSS	Brain Substantia Nigra	brain
32	chr1:66998800-67001800	Active TSS	Brain Hippocampus Middle	brain
33	chr1:66998800-67002000	Active TSS	Osteobl	bone
34	chr1:66998800-67002200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:66998800-67002200	Active TSS	Brain Angular Gyrus	brain
36	chr1:66998800-67002200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr1:66998800-67002200	Active TSS	Fetal Brain Male	brain
38	chr1:66998800-67002600	Active TSS	NHDF-Ad	bronchial
39	chr1:66998800-67002800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:66998800-67003400	Active TSS	NHLF	lung
41	chr1:66999000-67000200	Active TSS	Esophagus	oesophagus
42	chr1:66999000-67000400	Active TSS	Fetal Stomach	stomach
43	chr1:66999000-67000800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:66999000-67001200	Active TSS	Right Atrium	heart
45	chr1:66999000-67001200	Active TSS	Right Ventricle	heart
46	chr1:66999000-67001600	Active TSS	Brain Germinal Matrix	brain
47	chr1:66999000-67001800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:66999000-67002600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:66999000-67003600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:66999200-67000200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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