Variant report

Variant	rs12185053
Chromosome Location	chr14:70435977-70435978
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	chr14:70431486..70434460-chr14:70434887..70437389,2	K562	blood:

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

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

rs_ID	r²[population]
rs10142893	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184944	1.00[ASN][1000 genomes]
rs28609860	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59949074	1.00[ASN][1000 genomes]
rs61977383	1.00[ASN][1000 genomes]
rs61977384	1.00[ASN][1000 genomes]
rs61980656	1.00[ASN][1000 genomes]
rs61980657	1.00[ASN][1000 genomes]
rs61981598	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981599	1.00[ASN][1000 genomes]
rs61981600	1.00[ASN][1000 genomes]
rs61981601	1.00[ASN][1000 genomes]
rs61981602	1.00[ASN][1000 genomes]
rs61981760	1.00[ASN][1000 genomes]
rs61981761	1.00[ASN][1000 genomes]
rs61981762	1.00[ASN][1000 genomes]
rs61981763	1.00[ASN][1000 genomes]
rs61981764	1.00[ASN][1000 genomes]
rs61981765	1.00[ASN][1000 genomes]
rs61981766	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981767	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
2	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:70425800-70439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:70430400-70447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:70430800-70439000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70431600-70439200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:70431800-70438400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:70431800-70439400	Weak transcription	HMEC	breast
11	chr14:70433200-70436200	Enhancers	Fetal Brain Male	brain
12	chr14:70433200-70454000	Strong transcription	Liver	Liver
13	chr14:70433600-70445800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:70434000-70438800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:70434000-70439000	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:70434200-70438600	Weak transcription	Brain Substantia Nigra	brain
17	chr14:70434400-70436400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70434600-70438400	Weak transcription	HepG2	liver
19	chr14:70434800-70436400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70435200-70438200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:70435400-70436400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70435400-70440200	Weak transcription	Brain Germinal Matrix	brain
23	chr14:70435400-70443800	Weak transcription	Fetal Stomach	stomach
24	chr14:70435400-70447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:70435800-70438800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:70435800-70439000	Weak transcription	Fetal Brain Female	brain
27	chr14:70435800-70439200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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