Variant report

Variant	rs2422260
Chromosome Location	chr1:172895847-172895848
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	chr1:172886343..172888966-chr1:172894471..172896944,2	K562	blood:
2	chr1:172894734..172896568-chr1:172899985..172902296,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10489274	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10753064	0.97[ASN][1000 genomes]
rs10798242	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798243	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10912491	0.80[ASN][1000 genomes]
rs10912497	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912499	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12025176	0.80[ASN][1000 genomes]
rs12035082	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037203	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037606	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12088638	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097671	0.97[ASN][1000 genomes]
rs12407389	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565596	0.82[ASN][1000 genomes]
rs12739009	1.00[JPT][hapmap]
rs12748081	0.80[ASN][1000 genomes]
rs1883475	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1894636	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051629	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2179425	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2187893	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2206364	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2213746	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227203	1.00[ASN][1000 genomes]
rs2422257	0.89[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs35715673	0.80[ASN][1000 genomes]
rs4145468	0.80[ASN][1000 genomes]
rs4145469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916199	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916282	0.82[ASN][1000 genomes]
rs4916285	1.00[JPT][hapmap]
rs4916286	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916288	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5028523	0.91[ASN][1000 genomes]
rs6425189	0.82[EUR][1000 genomes]
rs6668693	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6674470	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6688532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517726	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7527986	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7528161	0.85[ASN][1000 genomes]
rs7539319	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926472	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926473	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926474	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283384	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2422260	SNORD47	cis	cerebellum	SCAN
rs2422260	C1orf114	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172888000-172897200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:172888400-172897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:172888800-172897400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:172889400-172897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:172889400-172897000	Weak transcription	HMEC	breast
6	chr1:172889400-172897200	Weak transcription	HUVEC	blood vessel
7	chr1:172889400-172897200	Weak transcription	NHDF-Ad	bronchial
8	chr1:172889600-172896200	Weak transcription	HSMM	muscle
9	chr1:172890400-172896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:172890400-172897200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:172890800-172897400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:172891000-172896600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:172895800-172896000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:172895800-172896400	Weak transcription	Osteobl	bone
15	chr1:172895800-172896600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:172895800-172900000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:172895800-172901600	Weak transcription	K562	blood
18	chr1:172895800-172902200	Weak transcription	Stomach Mucosa	stomach

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