Variant report

Variant	rs2243406
Chromosome Location	chr1:69700070-69700071
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2243482	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243513	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2245205	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2245305	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2245318	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2245330	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2246059	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2246060	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2246084	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246312	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246316	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246327	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2248308	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2248437	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2248671	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2248775	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2249355	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249379	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249479	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2249870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2249981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs2612233	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2612234	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2612235	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2612236	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2612238	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2612239	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2791209	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2791210	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2815431	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815434	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3753694	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4146494	0.84[ASN][1000 genomes]
rs4265389	0.81[AMR][1000 genomes];0.91[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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69698800-69700400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:69699200-69700200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:69699200-69700200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:69699200-69700400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:69699400-69700200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:69699400-69700600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:69699400-69700600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:69699600-69700200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:69699600-69700400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:69699600-69700400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:69699800-69700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:69699800-69700200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:69699800-69700200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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