Variant report

Variant	rs11754063
Chromosome Location	chr6:119438818-119438819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11753676	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11753851	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1935819	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs645361	1.00[CHB][hapmap]
rs6935642	0.81[EUR][1000 genomes]
rs9489593	0.84[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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11754063	MCM9	cis	parietal	SCAN
rs11754063	TSPYL1	cis	parietal	SCAN
rs11754063	FAM184A	cis	parietal	SCAN
rs11754063	MCM9	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119432400-119440800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:119434600-119440200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:119434600-119443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:119434800-119439800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:119435000-119440400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:119438200-119439200	Enhancers	K562	blood
7	chr6:119438800-119439400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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