Variant report

Variant	rs8012814
Chromosome Location	chr14:63723889-63723890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11845716	0.80[AFR][1000 genomes]
rs17100924	0.84[AFR][1000 genomes]
rs17224419	0.92[EUR][1000 genomes]
rs17224463	0.92[EUR][1000 genomes]
rs17224589	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17765428	0.93[EUR][1000 genomes]
rs17824335	0.92[EUR][1000 genomes]
rs17824395	0.92[EUR][1000 genomes]
rs17824486	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17824504	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2144112	0.93[EUR][1000 genomes]
rs8019142	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9635242	0.83[EUR][1000 genomes]
rs9635243	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv564894	chr14:63721611-63724585	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
8	esv3519012	chr14:63722999-63725947	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
9	esv3530645	chr14:63723377-63725226	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv3398736	chr14:63723546-63724994	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
11	esv3530644	chr14:63723682-63724967	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
12	esv3530646	chr14:63723744-63724908	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63700600-63732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:63708000-63733600	Weak transcription	Left Ventricle	heart
4	chr14:63716000-63729000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
6	chr14:63716800-63731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:63717400-63730200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:63717400-63734200	Weak transcription	Fetal Lung	lung
9	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:63717800-63733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:63718800-63728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:63720600-63725800	Strong transcription	Fetal Stomach	stomach
13	chr14:63720800-63733800	Weak transcription	NH-A	brain
14	chr14:63721000-63733600	Weak transcription	Lung	lung
15	chr14:63721200-63733600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:63721400-63728400	Weak transcription	Brain Anterior Caudate	brain
17	chr14:63721800-63733600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:63723200-63727400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:63723200-63727400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:63723400-63725400	Weak transcription	HUVEC	blood vessel
21	chr14:63723600-63732600	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:63723800-63724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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