Variant report

Variant	rs2791944
Chromosome Location	chr1:179143796-179143797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179143408..179146142-chr1:179150481..179152554,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1078872	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs10913690	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs10913692	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.88[ASN][1000 genomes]
rs10913695	0.85[ASN][1000 genomes]
rs10913697	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs12130276	0.91[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs1325195	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1763022	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1807916	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1826183	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1856968	0.87[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1858551	0.87[ASN][1000 genomes]
rs2050923	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2066279	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2087559	0.94[ASN][1000 genomes]
rs2130576	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2171958	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2171959	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2258217	0.80[ASN][1000 genomes]
rs2258221	0.86[ASN][1000 genomes]
rs2306941	0.81[EUR][1000 genomes]
rs2486995	0.87[ASN][1000 genomes]
rs2486997	0.88[ASN][1000 genomes]
rs2486998	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2487563	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2493123	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2493124	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.86[ASN][1000 genomes]
rs2636272	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2636274	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs2636275	0.82[ASN][1000 genomes]
rs2636276	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs2636277	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2636278	0.93[GIH][hapmap]
rs2636280	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2636282	0.82[ASN][1000 genomes]
rs2636291	0.89[ASN][1000 genomes]
rs2636293	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs2791936	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2791940	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2791941	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2791942	0.84[ASN][1000 genomes]
rs2791943	0.88[ASN][1000 genomes]
rs2791945	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2793790	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793793	0.94[ASN][1000 genomes]
rs2793794	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2793795	0.83[ASN][1000 genomes]
rs2793796	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs2793797	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2793798	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2793801	0.84[EUR][1000 genomes]
rs2793802	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2793803	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2793810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2793812	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2793813	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2793816	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap]
rs2816166	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816168	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2816183	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2816184	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2816185	0.90[ASN][1000 genomes]
rs2816186	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2816187	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2816189	0.94[ASN][1000 genomes]
rs2816190	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap]
rs2816191	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2816193	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap]
rs2816196	0.84[ASN][1000 genomes]
rs2816197	0.86[ASN][1000 genomes]
rs2816198	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2816199	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2816200	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816201	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816202	0.86[ASN][1000 genomes]
rs2816203	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2816204	0.86[ASN][1000 genomes]
rs2816207	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2816208	0.82[ASN][1000 genomes]
rs2816212	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2816213	0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2816214	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2816218	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3121198	0.82[EUR][1000 genomes]
rs3122376	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36122838	0.83[ASN][1000 genomes]
rs3813642	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.84[ASN][1000 genomes]
rs3813643	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.84[ASN][1000 genomes]
rs3829794	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes]
rs411266	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs413613	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs451088	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap]
rs4651012	0.84[ASN][1000 genomes]
rs4651013	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs915337	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs9286921	0.91[ASN][1000 genomes]
rs9425839	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs965401	0.94[ASN][1000 genomes]
rs9662858	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9726961	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9727252	0.87[ASN][1000 genomes]
rs9728480	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.87[ASN][1000 genomes]
rs9729129	0.92[ASN][1000 genomes]
rs9729199	0.83[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2791944	IER5	cis	cerebellum	SCAN
rs2791944	KIAA1614	cis	cerebellum	SCAN
rs2791944	ABL2	cis	multi-tissue	Pritchard
rs2791944	FAM20B	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179117800-179186000	Weak transcription	Fetal Stomach	stomach
2	chr1:179122000-179189400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:179122400-179153000	Weak transcription	Primary T cells from cord blood	blood
4	chr1:179134000-179146600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:179134000-179169000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:179136400-179144400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:179136800-179146200	Weak transcription	Fetal Heart	heart
8	chr1:179138200-179144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:179139200-179143800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:179139400-179143800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:179139400-179144200	Weak transcription	Adipose Nuclei	Adipose
12	chr1:179139400-179144200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:179139400-179144200	Weak transcription	HSMMtube	muscle
14	chr1:179139400-179144200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:179139400-179144400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:179139400-179144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:179139400-179144400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:179139400-179144400	Weak transcription	Aorta	Aorta
19	chr1:179139400-179144400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:179139400-179144400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:179139400-179144400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:179139400-179144400	Weak transcription	Ovary	ovary
23	chr1:179139400-179144400	Weak transcription	Osteobl	bone
24	chr1:179139400-179146200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:179139400-179146400	Weak transcription	Right Atrium	heart
26	chr1:179139400-179157200	Weak transcription	K562	blood
27	chr1:179139400-179158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:179139400-179196800	Weak transcription	Pancreas	Pancrea
29	chr1:179139600-179143800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:179139600-179143800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:179139600-179143800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:179139600-179144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:179139600-179144200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:179139600-179144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:179139600-179144200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:179139600-179144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:179139600-179144200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:179139600-179144200	Weak transcription	A549	lung
39	chr1:179139600-179144200	Weak transcription	Hela-S3	cervix
40	chr1:179139600-179144200	Weak transcription	HMEC	breast
41	chr1:179139600-179144200	Weak transcription	HSMM	muscle
42	chr1:179139600-179144200	Weak transcription	NH-A	brain
43	chr1:179139600-179144200	Weak transcription	NHEK	skin
44	chr1:179139600-179144200	Weak transcription	NHLF	lung
45	chr1:179139800-179143800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:179139800-179143800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:179139800-179143800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:179139800-179143800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:179139800-179143800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:179139800-179143800	Weak transcription	Left Ventricle	heart

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