Variant report

Variant	rs1888075
Chromosome Location	chr9:73755602-73755603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1032845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032846	0.82[AMR][1000 genomes]
rs10746858	0.82[AMR][1000 genomes]
rs11794936	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1329774	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1411169	0.82[AMR][1000 genomes]
rs1888076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927939	0.82[AMR][1000 genomes]
rs1927940	0.82[AMR][1000 genomes]
rs1927941	0.82[AMR][1000 genomes]
rs4745058	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035505	chr9:73709852-73934353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv527618	chr9:73755434-73756531	Weak transcription	n/a	n/a	inside rSNPs	diseases
3	nsv614599	chr9:73755434-73767864	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
4	nsv527238	chr9:73755602-73756531	Weak transcription	n/a	n/a	inside rSNPs	diseases
5	nsv614600	chr9:73755602-73765910	Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv614601	chr9:73755602-73767972	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1888075	MAMDC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73740400-73758400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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