Variant report

Variant	rs2056635
Chromosome Location	chr2:7383183-7383184
allele	A/C
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: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17628484	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17678724	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17679952	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17679999	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2056634	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2056637	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2059984	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55751069	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55900254	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58433699	0.91[ASN][1000 genomes]
rs60010006	0.83[ASN][1000 genomes]
rs62104707	0.86[ASN][1000 genomes]
rs62104708	0.86[ASN][1000 genomes]
rs62104709	0.86[ASN][1000 genomes]
rs62104710	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72770038	0.86[ASN][1000 genomes]
rs72770045	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72770048	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72770050	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72770051	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72770052	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72770055	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72770056	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72770057	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72770059	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72770065	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7556844	0.95[ASN][1000 genomes]
rs7599240	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7599262	0.83[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
rs2056635	HPCAL1	cis	parietal	SCAN

Chromatin state (count:12 , 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	chr2:7382200-7383200	Enhancers	Spleen	Spleen
6	chr2:7382200-7383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:7382400-7383200	Enhancers	GM12878-XiMat	blood
8	chr2:7382600-7385600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:7382800-7383200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:7382800-7384200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:7383000-7383400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:7383000-7383800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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