Variant report

Variant	rs2056634
Chromosome Location	chr2:7383237-7383238
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	chr2:7378951..7380518-chr2:7382090..7384439,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17627644	0.90[ASN][1000 genomes]
rs17628027	0.90[ASN][1000 genomes]
rs17628092	0.90[ASN][1000 genomes]
rs17628484	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17678724	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17679036	0.90[ASN][1000 genomes]
rs17679952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17679999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2056635	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2056637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059984	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35238941	0.90[ASN][1000 genomes]
rs55680060	0.90[ASN][1000 genomes]
rs55751069	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55900254	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55935532	0.90[ASN][1000 genomes]
rs56007885	0.90[ASN][1000 genomes]
rs56344406	0.90[ASN][1000 genomes]
rs62104661	0.90[ASN][1000 genomes]
rs62104666	0.81[ASN][1000 genomes]
rs62104669	0.90[ASN][1000 genomes]
rs62104707	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62104708	1.00[ASN][1000 genomes]
rs62104709	1.00[ASN][1000 genomes]
rs62104710	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72770008	0.90[ASN][1000 genomes]
rs72770026	0.90[ASN][1000 genomes]
rs72770038	1.00[ASN][1000 genomes]
rs72770045	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72770048	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72770050	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72770051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72770052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72770055	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72770056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72770057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72770059	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72770065	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7556844	0.81[ASN][1000 genomes]
rs7557365	0.90[ASN][1000 genomes]
rs7599240	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv833337	chr2:7337273-7521146	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2056634	HPCAL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7372000-7388400	Weak transcription	Pancreas	Pancrea
2	chr2:7378000-7388400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:7381600-7387000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:7381800-7383800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:7382200-7383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:7382600-7385600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:7382800-7384200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:7383000-7383400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:7383000-7383800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:7383200-7399800	Weak transcription	Spleen	Spleen

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