Variant report

Variant	rs2121372
Chromosome Location	chr2:210227415-210227416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10192555	1.00[YRI][hapmap]
rs10210266	0.86[YRI][hapmap]
rs11883740	0.81[AFR][1000 genomes]
rs12614926	0.86[YRI][hapmap]
rs12620142	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12621438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13006249	0.81[AFR][1000 genomes]
rs13391766	0.86[YRI][hapmap]
rs1374335	0.95[ASN][1000 genomes]
rs1446595	0.87[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17236116	0.86[YRI][hapmap]
rs2028893	0.86[YRI][hapmap]
rs2123701	0.86[YRI][hapmap]
rs4417658	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs4673469	0.81[AFR][1000 genomes]
rs4673470	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4673472	0.93[AFR][1000 genomes]
rs6435528	0.86[YRI][hapmap]
rs6710965	0.80[EUR][1000 genomes]
rs6717872	0.91[AFR][1000 genomes]
rs6719025	0.88[AFR][1000 genomes]
rs6726105	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs6733990	0.81[EUR][1000 genomes]
rs6751612	0.86[YRI][hapmap]
rs7561085	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7604561	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs935404	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs935405	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs982271	0.81[EUR][1000 genomes]
rs993784	0.86[YRI][hapmap]
rs995565	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875764	chr2:210195717-210240990	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1014900	chr2:210205050-210235562	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1006636	chr2:210207332-210235562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2121372	CPS1IT1	cis	parietal	SCAN
rs2121372	SNORD51	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210223800-210229000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:210227000-210227600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:210227200-210227600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:210227200-210227600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:210227400-210227800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:210227400-210228600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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