Variant report

Variant	rs4554514
Chromosome Location	chr8:91355968-91355969
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	chr8:91355349..91357838-chr8:91359194..91361170,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10441528	0.97[ASN][1000 genomes]
rs10956586	0.80[ASN][1000 genomes]
rs10956589	0.96[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956590	0.96[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12542159	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548764	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12677381	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13263139	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16904390	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904410	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs16904419	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1859180	0.82[EUR][1000 genomes]
rs2005936	0.94[ASN][1000 genomes]
rs2189254	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35373684	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3863251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934716	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3934717	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236770	0.81[CEU][hapmap]
rs4263818	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4286991	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4288425	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4364677	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4379493	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4510907	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4527927	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4534167	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4567086	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4576466	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734084	0.95[ASN][1000 genomes]
rs4734447	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734449	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734540	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734541	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734704	0.97[ASN][1000 genomes]
rs4734706	0.97[ASN][1000 genomes]
rs4734718	0.94[ASN][1000 genomes]
rs4735609	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61582074	0.95[ASN][1000 genomes]
rs6470976	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470995	0.97[ASN][1000 genomes]
rs6470998	0.97[ASN][1000 genomes]
rs6470999	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.97[ASN][1000 genomes]
rs6471000	0.97[ASN][1000 genomes]
rs6988658	0.93[ASN][1000 genomes]
rs6996909	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009336	0.93[ASN][1000 genomes]
rs7009723	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.93[ASN][1000 genomes]
rs7014679	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs727099	0.96[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7460798	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822035	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827909	0.97[ASN][1000 genomes]
rs7829290	0.97[ASN][1000 genomes]
rs7844648	0.97[ASN][1000 genomes]
rs7845673	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs975976	0.95[ASN][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	nsv1018991	chr8:91336887-91374274	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4554514	RUNX1T1	cis	cerebellum	SCAN
rs4554514	MMP16	cis	parietal	SCAN
rs4554514	DECR1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91352000-91364400	Weak transcription	K562	blood
2	chr8:91353400-91357800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:91354600-91357200	Weak transcription	HMEC	breast
4	chr8:91354800-91356800	Enhancers	Fetal Stomach	stomach
5	chr8:91355000-91356000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:91355000-91356000	Enhancers	Colon Smooth Muscle	Colon
7	chr8:91355000-91356600	Enhancers	Ovary	ovary
8	chr8:91355200-91356200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:91355200-91356600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:91355200-91358000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:91355200-91358400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:91355400-91356200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:91355400-91358000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:91355600-91358600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:91355800-91356000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:91355800-91358000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:91355800-91358000	Enhancers	HUES6 Cell Line	embryonic stem cell

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