Variant report

Variant	rs2248775
Chromosome Location	chr1:69697308-69697309
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:69691851..69693855-chr1:69696982..69699596,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2243406	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2243482	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2243513	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2245205	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2245305	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2245318	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2245330	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2246059	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246060	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246084	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246312	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246316	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246327	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2248308	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2248437	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2248671	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2249355	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2249379	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2249479	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2249487	1.00[CEU][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs2249870	1.00[CEU][hapmap]
rs2612233	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2612234	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2612235	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2612236	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2612238	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2612239	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2791209	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2791210	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2815431	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2815434	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3753694	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4265389	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830115	chr1:69593494-69736995	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1299	chr1:69687227-69732225	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1840142	chr1:69692232-69728843	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2248775	MIER1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69696600-69698800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:69696600-69699600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:69696800-69699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:69696800-69699600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:69696800-69699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:69697000-69699400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:69697200-69697400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:69697200-69697400	Enhancers	Adipose Nuclei	Adipose
9	chr1:69697200-69699200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:69697200-69699400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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