Variant report

Variant	rs214024
Chromosome Location	chr14:78813523-78813524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11159358	0.81[CEU][hapmap]
rs12887245	0.83[CHB][hapmap]
rs12892370	0.92[CEU][hapmap]
rs12893431	0.92[CEU][hapmap]
rs17107482	0.81[CHB][hapmap]
rs191940	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214003	0.86[TSI][hapmap];0.84[AMR][1000 genomes]
rs214006	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214007	0.83[CEU][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs214008	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214010	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214011	0.94[ASW][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214012	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214013	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214014	0.89[ASW][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214017	0.90[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs214018	0.94[ASW][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214019	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214020	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214021	0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs214022	0.91[AMR][1000 genomes]
rs214023	0.89[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214026	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214027	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35575369	0.92[CEU][hapmap]

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	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs214024	HEATR4	cis	parietal	SCAN
rs214024	HEATR4	cis	cerebellum	SCAN
rs214024	C14orf43	cis	cerebellum	SCAN
rs214024	ACYP1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78810200-78813800	Enhancers	Brain Germinal Matrix	brain
2	chr14:78810400-78814400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:78810800-78814400	Enhancers	Fetal Intestine Small	intestine
4	chr14:78813200-78813800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:78813200-78814200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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