Variant report

Variant	rs2034960
Chromosome Location	chr1:216358402-216358403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1066176	0.92[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs11120739	0.83[CHB][hapmap]
rs11120740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1324330	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17026208	0.83[CHB][hapmap]
rs17026219	0.83[CHB][hapmap]
rs1805049	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274117	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2669057	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs301750	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs301752	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs301759	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs301760	0.91[CEU][hapmap];0.89[CHB][hapmap]
rs3754064	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3767692	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs3767693	0.84[CHB][hapmap]
rs378340	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs401269	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs407590	0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs415508	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs430652	0.92[CEU][hapmap]
rs439940	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4971260	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588516	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs592642	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs600535	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs62906	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs646094	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs648564	0.85[EUR][1000 genomes]
rs659875	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs669616	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs677648	0.91[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes]
rs680410	0.83[CHB][hapmap]
rs696719	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs700015	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs773498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9660965	0.83[CHB][hapmap]
rs9661602	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216355600-216360400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:216356000-216358600	Enhancers	Brain Germinal Matrix	brain
3	chr1:216356000-216359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:216356000-216360000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:216356200-216358600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:216356200-216358600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:216356200-216360000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:216357000-216358600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:216357000-216358600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:216357200-216360600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:216357200-216360600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:216357400-216360000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:216357600-216358600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:216357600-216359800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:216358000-216359600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:216358400-216358600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:216358400-216358600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:216358400-216359600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:216358400-216367200	Weak transcription	H9 Cell Line	embryonic stem cell

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