Variant report

Variant	rs1991795
Chromosome Location	chr5:148179160-148179161
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10037979	0.89[EUR][1000 genomes]
rs10045453	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10477394	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742884	0.93[EUR][1000 genomes]
rs1347110	0.88[EUR][1000 genomes]
rs17778143	0.93[EUR][1000 genomes]
rs2400705	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883021	chr5:148060817-148182123	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1991795	CAMK2A	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148175200-148180200	Weak transcription	K562	blood
2	chr5:148175200-148181200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:148175400-148179200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:148175400-148181400	Weak transcription	GM12878-XiMat	blood
5	chr5:148175800-148179200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:148175800-148179600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:148175800-148179600	Weak transcription	Primary B cells from cord blood	blood
8	chr5:148175800-148181200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:148175800-148185000	Weak transcription	Osteobl	bone
10	chr5:148178800-148179800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:148178800-148188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:148179000-148188400	Enhancers	Primary monocytes fromperipheralblood	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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