Variant report

Variant	rs214007
Chromosome Location	chr14:78808789-78808790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78807798..78810250-chr14:78831662..78833314,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17107396	0.81[CHB][hapmap]
rs191940	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs214003	0.90[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs214006	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214008	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214010	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214011	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214012	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214013	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214014	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214017	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214018	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214019	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs214020	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214022	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs214023	0.83[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs214024	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]
rs214026	0.83[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs214027	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.80[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs214007	HEATR4	cis	cerebellum	SCAN
rs214007	HEATR4	cis	parietal	SCAN
rs214007	ACYP1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78802200-78810000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:78807400-78808800	Enhancers	Brain Germinal Matrix	brain
3	chr14:78808200-78809600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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