Variant report

Variant	rs8015808
Chromosome Location	chr14:70432121-70432122
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70431486..70434460-chr14:70434887..70437389,2	K562	blood:
2	chr14:70430216..70432462-chr14:70446233..70448527,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10139510	0.80[ASN][1000 genomes]
rs10143792	0.80[ASN][1000 genomes]
rs1037801	0.81[ASN][1000 genomes]
rs11848845	0.81[ASN][1000 genomes]
rs11849125	0.80[ASN][1000 genomes]
rs11849133	0.80[ASN][1000 genomes]
rs12586293	0.80[ASN][1000 genomes]
rs12589352	0.81[ASN][1000 genomes]
rs12883649	0.80[ASN][1000 genomes]
rs12885374	0.80[ASN][1000 genomes]
rs12885763	0.81[ASN][1000 genomes]
rs12889706	0.80[ASN][1000 genomes]
rs1380431	0.80[ASN][1000 genomes]
rs17107501	0.81[ASN][1000 genomes]
rs34833758	0.80[ASN][1000 genomes]
rs6573918	0.80[ASN][1000 genomes]
rs67295508	0.81[ASN][1000 genomes]
rs8003166	0.80[ASN][1000 genomes]
rs8004069	0.80[ASN][1000 genomes]
rs8011726	0.80[ASN][1000 genomes]
rs984036	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
2	chr14:70415400-70434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:70422000-70433800	Weak transcription	HepG2	liver
6	chr14:70423000-70434600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:70423800-70433000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:70425800-70439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:70427000-70435000	Weak transcription	Fetal Brain Female	brain
10	chr14:70429200-70435400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70429800-70434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:70430400-70447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:70430600-70433200	Weak transcription	Fetal Brain Male	brain
15	chr14:70430800-70434400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70430800-70439000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:70431600-70433000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:70431600-70433600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:70431600-70439200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:70431800-70433200	Weak transcription	Liver	Liver
21	chr14:70431800-70433400	Weak transcription	Brain Substantia Nigra	brain
22	chr14:70431800-70433600	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:70431800-70438400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:70431800-70439400	Weak transcription	HMEC	breast

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