Variant report

Variant	rs55684917
Chromosome Location	chr14:20742722-20742723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28841269	1.00[ASN][1000 genomes]
rs61993950	0.97[EUR][1000 genomes]
rs61993951	0.97[EUR][1000 genomes]
rs61993952	0.97[EUR][1000 genomes]
rs61993953	0.97[EUR][1000 genomes]
rs61993956	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901299	chr14:20191869-20756887	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
4	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
8	nsv1055102	chr14:20687007-20743269	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1052883	chr14:20689721-20743269	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20722600-20755000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:20724400-20755200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:20725400-20748200	Weak transcription	Ovary	ovary
4	chr14:20731200-20743200	Weak transcription	Psoas Muscle	Psoas
5	chr14:20731400-20755600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:20731400-20757000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:20731600-20754400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:20739400-20743600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr14:20740200-20745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:20740200-20755200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:20740600-20754600	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:20741200-20756400	Weak transcription	Gastric	stomach
13	chr14:20741200-20757400	Weak transcription	Right Ventricle	heart
14	chr14:20741400-20755800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:20741600-20742800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:20741600-20743000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr14:20741600-20744200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:20741600-20755200	Weak transcription	Aorta	Aorta
19	chr14:20741600-20755200	Weak transcription	Pancreas	Pancrea
20	chr14:20741800-20743400	ZNF genes & repeats	Fetal Lung	lung
21	chr14:20742000-20742800	ZNF genes & repeats	Dnd41	blood
22	chr14:20742200-20742800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:20742200-20742800	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr14:20742200-20742800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
25	chr14:20742400-20756600	Weak transcription	Spleen	Spleen
26	chr14:20742400-20759000	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:20742600-20742800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:20742600-20742800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:20742600-20742800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:20742600-20742800	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr14:20742600-20742800	ZNF genes & repeats	Colonic Mucosa	Colon
32	chr14:20742600-20742800	Enhancers	Lung	lung
33	chr14:20742600-20742800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr14:20742600-20742800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr14:20742600-20743000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
36	chr14:20742600-20756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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