Variant report

Variant	rs57139172
Chromosome Location	chr14:70457356-70457357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70456335-70461656	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:70456315-70459260	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SMOC1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11848277	1.00[EUR][1000 genomes]
rs2069109	1.00[EUR][1000 genomes]
rs2332268	1.00[EUR][1000 genomes]
rs28456261	1.00[EUR][1000 genomes]
rs28468655	1.00[EUR][1000 genomes]
rs56290405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56723492	1.00[EUR][1000 genomes]
rs56837831	1.00[EUR][1000 genomes]
rs57292391	1.00[EUR][1000 genomes]
rs57510137	1.00[AMR][1000 genomes]
rs57709257	1.00[EUR][1000 genomes]
rs58673738	1.00[EUR][1000 genomes]
rs59918631	1.00[AMR][1000 genomes]
rs60048839	1.00[EUR][1000 genomes]
rs61059545	1.00[EUR][1000 genomes]
rs61226888	1.00[EUR][1000 genomes]
rs61253398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61382738	1.00[AMR][1000 genomes]
rs61612924	1.00[AMR][1000 genomes]
rs6573926	1.00[EUR][1000 genomes]
rs7148591	1.00[EUR][1000 genomes]
rs7150074	1.00[EUR][1000 genomes]
rs74060658	1.00[EUR][1000 genomes]
rs74060659	1.00[EUR][1000 genomes]
rs74060660	1.00[EUR][1000 genomes]
rs74060661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060662	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060663	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060665	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061027	1.00[AMR][1000 genomes]
rs74061030	1.00[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70439000-70458800	Weak transcription	Gastric	stomach
2	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
3	chr14:70450000-70458600	Weak transcription	Aorta	Aorta
4	chr14:70450600-70464800	Weak transcription	Fetal Stomach	stomach
5	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
6	chr14:70451800-70459200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:70452400-70458400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70452800-70460600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:70453000-70464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:70453200-70457800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70453200-70458600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:70453200-70462600	Weak transcription	NHEK	skin
13	chr14:70453600-70462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:70454200-70457400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:70454600-70458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:70454800-70460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:70455800-70457400	Enhancers	HepG2	liver
18	chr14:70455800-70458600	Enhancers	Liver	Liver
19	chr14:70456200-70457400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70456400-70457800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:70456400-70457800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr14:70456400-70458600	Enhancers	Brain Germinal Matrix	brain
23	chr14:70456400-70459200	Enhancers	Brain Hippocampus Middle	brain
24	chr14:70456600-70457600	Enhancers	Brain Cingulate Gyrus	brain
25	chr14:70456600-70457800	Enhancers	Brain Substantia Nigra	brain
26	chr14:70456800-70459000	Enhancers	Fetal Intestine Large	intestine
27	chr14:70456800-70463800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:70456800-70463800	Weak transcription	Pancreas	Pancrea
29	chr14:70457000-70458000	Enhancers	Fetal Brain Male	brain
30	chr14:70457000-70459400	Weak transcription	Hela-S3	cervix
31	chr14:70457200-70457600	Enhancers	Brain Anterior Caudate	brain
32	chr14:70457200-70457800	Enhancers	Brain Angular Gyrus	brain

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