Variant report

Variant	rs10214443
Chromosome Location	chr6:132484124-132484125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132483283-132485040	GM12878	blood:
2	6:132176847-132180372..6:132483283-132485040	GM12878	blood:
3	6:132182612-132191683..6:132483283-132485040	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000197594	Chromatin interaction
ENSG00000118523	Chromatin interaction
ENSG00000227220	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12333213	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1321271	1.00[EUR][1000 genomes]
rs1321273	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2064771	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2876172	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57273539	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61584962	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6569775	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6569776	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6916021	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6920169	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6925799	1.00[EUR][1000 genomes]
rs6937406	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6940428	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6940609	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6940746	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6941580	0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551712	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551713	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7356898	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7745229	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7745523	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7751452	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7752512	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7756259	0.83[EUR][1000 genomes]
rs7756584	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7756735	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7757338	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761015	1.00[EUR][1000 genomes]
rs7774777	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9321326	0.87[AFR][1000 genomes]
rs9321327	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs9483389	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483391	1.00[EUR][1000 genomes]
rs9483392	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483393	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483394	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483397	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483400	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483404	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483407	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493189	1.00[EUR][1000 genomes]
rs9493191	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493192	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493193	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493194	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493195	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493197	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493201	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493202	0.92[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493203	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493204	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493205	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs9493207	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493210	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493213	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493214	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9493215	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493216	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493217	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9493219	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493220	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493221	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493222	1.00[EUR][1000 genomes]
rs9493223	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493226	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493227	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9632501	1.00[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	esv2762616	chr6:132404708-132584324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10214443	C9orf16	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132459600-132494800	Weak transcription	Primary B cells from cord blood	blood
2	chr6:132475200-132485800	Weak transcription	HSMMtube	muscle
3	chr6:132482600-132488800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:132482600-132489400	Weak transcription	Aorta	Aorta
5	chr6:132482800-132486200	Weak transcription	HUVEC	blood vessel

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