Variant report

Variant	rs998884
Chromosome Location	chr2:148539852-148539853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10180655	0.85[CEU][hapmap]
rs12622150	0.82[CEU][hapmap]
rs13016400	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1895694	0.82[CEU][hapmap]
rs2042555	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2194695	0.83[CEU][hapmap]
rs3768688	0.83[CEU][hapmap]
rs55816333	0.85[EUR][1000 genomes]
rs56073268	0.82[EUR][1000 genomes]
rs6709182	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs6713811	0.82[CEU][hapmap]
rs755365	1.00[ASN][1000 genomes]
rs7566230	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs7582403	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs9287411	0.82[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv1842822	chr2:148505544-148542682	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs998884	ORC4L	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148535000-148540400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:148539000-148541000	Enhancers	HSMMtube	muscle
3	chr2:148539600-148540000	Enhancers	HSMM	muscle
4	chr2:148539600-148540200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:148539600-148540600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:148539600-148540800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:148539800-148540400	Enhancers	Psoas Muscle	Psoas
8	chr2:148539800-148540600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:148539800-148540600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:148539800-148540600	Enhancers	K562	blood

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

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