Variant report

Variant	rs8006990
Chromosome Location	chr14:31947352-31947353
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	chr14:31926644..31929603-chr14:31946033..31947573,2	K562	blood:
2	chr14:31925036..31927590-chr14:31947189..31950405,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129480	Chromatin interaction
ENSG00000203546	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10134812	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10138925	0.94[EUR][1000 genomes]
rs10147284	0.99[EUR][1000 genomes]
rs10150938	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151479	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11156667	0.88[CEU][hapmap]
rs11156673	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11620714	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11845550	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11845830	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11846073	0.82[ASN][1000 genomes]
rs11847017	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11847614	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11850265	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11850273	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11851140	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12436396	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12590885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881016	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12881925	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12891556	0.89[EUR][1000 genomes]
rs12891787	0.92[EUR][1000 genomes]
rs12892435	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12893465	0.85[CEU][hapmap]
rs13176	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1888576	0.85[CEU][hapmap]
rs1958027	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2094906	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2104820	0.81[EUR][1000 genomes]
rs2182254	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274291	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs34182758	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34278949	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34704647	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35483550	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4981100	0.92[EUR][1000 genomes]
rs4981101	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4981849	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981850	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5016597	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61180027	0.81[ASN][1000 genomes]
rs6571423	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571426	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7149165	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7149522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153450	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154915	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7157390	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159566	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8007488	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8007946	0.98[EUR][1000 genomes]
rs8008016	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8010209	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8011206	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8012658	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv456198	chr14:31919728-31972289	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv564179	chr14:31919728-31972289	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8006990	C14orf126	Cis_1M	lymphoblastoid	RTeQTL
rs8006990	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31945000-31947600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:31946000-31948000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:31946200-31947400	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:31946200-31947800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:31946200-31948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:31946400-31947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:31946600-31948200	Weak transcription	Fetal Heart	heart
8	chr14:31947200-31947800	Weak transcription	Brain Anterior Caudate	brain
9	chr14:31947200-31949400	Enhancers	Brain Cingulate Gyrus	brain

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