Variant report

Variant	rs7146614
Chromosome Location	chr14:78476822-78476823
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	chr14:78475686..78477933-chr14:78479406..78481159,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12894998	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177216	0.81[GIH][hapmap]
rs177224	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs177226	0.92[ASN][1000 genomes]
rs177229	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs177232	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs177238	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs177239	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs177243	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1955571	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903678	0.83[ASN][1000 genomes]
rs4903686	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903687	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903688	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903689	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574416	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7140733	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7152858	0.93[ASN][1000 genomes]
rs7153421	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7160437	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005420	0.80[MEX][hapmap]
rs8019668	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021165	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8022316	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34345	chr14:78370455-78496587	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2757576	chr14:78379156-78502019	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759999	chr14:78379156-78502019	Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv902108	chr14:78459047-78541015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78472600-78477200	Weak transcription	NH-A	brain
2	chr14:78476600-78477800	Enhancers	NHEK	skin
3	chr14:78476600-78478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:78476800-78477000	Bivalent Enhancer	Esophagus	oesophagus
5	chr14:78476800-78477200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:78476800-78477400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:78476800-78477600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:78476800-78477600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:78476800-78477600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:78476800-78477600	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:78476800-78477600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:78476800-78477600	Enhancers	Brain Substantia Nigra	brain
13	chr14:78476800-78477600	Enhancers	Osteobl	bone
14	chr14:78476800-78477800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:78476800-78477800	Enhancers	Brain Hippocampus Middle	brain

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