Variant report

Variant	rs8007612
Chromosome Location	chr14:69830974-69830975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69830172..69832846-chr14:69834096..69836793,3	K562	blood:
2	chr14:69830050..69832763-chr14:69863489..69865045,2	K562	blood:
3	chr14:69822349..69827857-chr14:69829114..69832930,7	MCF-7	breast:
4	chr14:69829365..69831341-chr14:69925811..69928602,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100632	Chromatin interaction
ENSG00000029364	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1275672	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17836204	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296723	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs45552031	0.85[AFR][1000 genomes]
rs7140358	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145903	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152886	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156420	0.87[TSI][hapmap]
rs7158020	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003906	0.83[TSI][hapmap]
rs8013221	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013985	0.87[TSI][hapmap]
rs8014284	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015357	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016546	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016589	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021143	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456334	chr14:69793624-69831037	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564966	chr14:69793624-69831037	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8007612	C14orf181	cis	cerebellum	SCAN
rs8007612	COX16	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69815600-69838800	Weak transcription	Brain Germinal Matrix	brain
2	chr14:69818600-69842800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:69821000-69838800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:69821000-69839600	Weak transcription	Fetal Brain Female	brain
5	chr14:69821800-69852400	Weak transcription	Spleen	Spleen
6	chr14:69824200-69864000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:69827600-69838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:69828000-69838800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:69828000-69838800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:69828000-69843000	Weak transcription	GM12878-XiMat	blood
11	chr14:69829400-69832000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:69829600-69831200	Enhancers	Brain Hippocampus Middle	brain
13	chr14:69829600-69831400	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:69830000-69831000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:69830000-69831200	Enhancers	Brain Anterior Caudate	brain
16	chr14:69830000-69831200	Enhancers	Brain Substantia Nigra	brain
17	chr14:69830000-69847200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69830200-69842400	Weak transcription	NHDF-Ad	bronchial
19	chr14:69830200-69843000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:69830400-69831600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:69830600-69831000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:69830600-69831200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:69830600-69831600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:69830600-69841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:69830800-69831400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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