Variant report

Variant	rs57048278
Chromosome Location	chr14:68213385-68213386
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	chr14:68213338-68213395	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000252792	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs34805563	1.00[AMR][1000 genomes]
rs35080917	1.00[AMR][1000 genomes]
rs35106153	1.00[AMR][1000 genomes]
rs35575056	1.00[AMR][1000 genomes]
rs35577122	1.00[AMR][1000 genomes]
rs35917338	1.00[AMR][1000 genomes]
rs57024266	1.00[AMR][1000 genomes]
rs58431859	1.00[AMR][1000 genomes]
rs58724136	1.00[AMR][1000 genomes]
rs59429458	1.00[AMR][1000 genomes]
rs59589798	1.00[AMR][1000 genomes]
rs59922989	1.00[AMR][1000 genomes]
rs60013875	1.00[AMR][1000 genomes]
rs60273960	1.00[AMR][1000 genomes]
rs60782801	1.00[AMR][1000 genomes]
rs61011477	1.00[AMR][1000 genomes]
rs61214213	1.00[AMR][1000 genomes]
rs61341378	1.00[AMR][1000 genomes]
rs61584136	1.00[AMR][1000 genomes]
rs73272331	1.00[AMR][1000 genomes]
rs73274539	1.00[AMR][1000 genomes]
rs73276671	1.00[AMR][1000 genomes]
rs73276676	1.00[AMR][1000 genomes]
rs73276687	1.00[AMR][1000 genomes]
rs73278432	1.00[AMR][1000 genomes]
rs73278469	1.00[AMR][1000 genomes]
rs73280405	1.00[AMR][1000 genomes]
rs73280424	1.00[AMR][1000 genomes]
rs73280429	1.00[AMR][1000 genomes]
rs73280438	1.00[AMR][1000 genomes]
rs73280465	1.00[AMR][1000 genomes]
rs73280477	1.00[AMR][1000 genomes]
rs73280481	1.00[AMR][1000 genomes]
rs73280491	1.00[AMR][1000 genomes]
rs73282413	1.00[AMR][1000 genomes]
rs73282473	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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:68201400-68213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:68201400-68213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
9	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
10	chr14:68202800-68214000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
12	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
13	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
14	chr14:68204400-68214800	Weak transcription	Gastric	stomach
15	chr14:68205800-68213600	Weak transcription	Placenta	Placenta
16	chr14:68206000-68213600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:68206000-68213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:68206000-68213800	Weak transcription	Liver	Liver
19	chr14:68206000-68214000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:68206000-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:68206000-68214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:68206000-68214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:68206000-68214800	Weak transcription	Brain Anterior Caudate	brain
24	chr14:68206000-68214800	Weak transcription	Esophagus	oesophagus
25	chr14:68206000-68214800	Weak transcription	HSMMtube	muscle
26	chr14:68206000-68215000	Weak transcription	Colonic Mucosa	Colon
27	chr14:68206000-68216200	Weak transcription	NH-A	brain
28	chr14:68206200-68251000	Weak transcription	K562	blood
29	chr14:68206400-68214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:68206400-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:68206400-68214800	Weak transcription	HMEC	breast
32	chr14:68206400-68216800	Weak transcription	NHEK	skin
33	chr14:68206600-68214600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:68206600-68214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:68206600-68214600	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:68206600-68214600	Weak transcription	Fetal Intestine Small	intestine
37	chr14:68206600-68214600	Weak transcription	NHLF	lung
38	chr14:68206600-68215800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:68206800-68213600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:68206800-68215000	Weak transcription	Hela-S3	cervix
41	chr14:68206800-68217600	Weak transcription	HepG2	liver
42	chr14:68207000-68214800	Weak transcription	A549	lung
43	chr14:68208000-68214800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:68209800-68214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:68210000-68214000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:68210200-68213800	Weak transcription	Lung	lung
47	chr14:68210200-68214000	Weak transcription	Brain Germinal Matrix	brain
48	chr14:68210600-68214000	Weak transcription	Aorta	Aorta
49	chr14:68210800-68213400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:68210800-68213400	Weak transcription	GM12878-XiMat	blood

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