Variant report

Variant	rs4622442
Chromosome Location	chr14:84902543-84902544
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10131414	0.92[EUR][1000 genomes]
rs12588804	0.87[EUR][1000 genomes]
rs2998308	1.00[ASW][hapmap]
rs4294743	0.89[EUR][1000 genomes]
rs4365225	0.92[EUR][1000 genomes]
rs4365226	0.92[EUR][1000 genomes]
rs56056307	0.87[EUR][1000 genomes]
rs7145446	0.92[EUR][1000 genomes]
rs72629355	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs8003607	0.92[EUR][1000 genomes]
rs8012515	0.87[EUR][1000 genomes]
rs8012842	0.87[EUR][1000 genomes]
rs8017425	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	esv2751288	chr14:84815330-85704047	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4622442	GTF2A1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84902200-84902600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:84902200-84903800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:84902200-84904000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:84902200-84904000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:84902200-84904000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:84902400-84903200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:84902400-84903400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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