Variant report

Variant	rs10197693
Chromosome Location	chr2:21473751-21473752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10197800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690578	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12615034	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4567965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4665243	0.87[AMR][1000 genomes]
rs4665638	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55835632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62133423	0.86[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	nsv519215	chr2:21473751-21502727	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10197693	ZNHIT2	trans	cerebellum	SCAN
rs10197693	PFN4	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21462200-21480800	Weak transcription	Aorta	Aorta
2	chr2:21471800-21475000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:21472600-21473800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:21472600-21473800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:21473200-21474200	Enhancers	Brain Substantia Nigra	brain
6	chr2:21473200-21488800	Enhancers	Brain Hippocampus Middle	brain
7	chr2:21473400-21474600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:21473400-21474800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:21473400-21475000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:21473600-21474000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:21473600-21474000	Enhancers	Brain Anterior Caudate	brain
12	chr2:21473600-21474600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:21473600-21475000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:21473600-21476200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:21473600-21487400	Enhancers	Brain Cingulate Gyrus	brain

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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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