Variant report

Variant	rs73587007
Chromosome Location	chr14:20866720-20866721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129630	1.00[EUR][1000 genomes]
rs17111188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17113250	1.00[EUR][1000 genomes]
rs2229100	1.00[EUR][1000 genomes]
rs28498996	1.00[EUR][1000 genomes]
rs3093919	1.00[EUR][1000 genomes]
rs3093929	1.00[EUR][1000 genomes]
rs36219435	1.00[EUR][1000 genomes]
rs61351655	1.00[EUR][1000 genomes]
rs61455440	1.00[EUR][1000 genomes]
rs7143340	1.00[EUR][1000 genomes]
rs7160712	1.00[EUR][1000 genomes]
rs73575070	1.00[EUR][1000 genomes]
rs73583407	1.00[EUR][1000 genomes]
rs73583490	1.00[EUR][1000 genomes]
rs73587012	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74033863	1.00[EUR][1000 genomes]
rs74033868	1.00[EUR][1000 genomes]
rs8005210	1.00[EUR][1000 genomes]
rs8006448	1.00[EUR][1000 genomes]
rs8013332	1.00[EUR][1000 genomes]
rs8016586	1.00[EUR][1000 genomes]
rs9888571	1.00[AMR][1000 genomes]
rs9888590	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
6	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:20829200-20877000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:20829400-20876800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:20829600-20876800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:20829800-20877400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:20830400-20869000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:20830400-20876800	Strong transcription	Fetal Stomach	stomach
9	chr14:20830400-20877200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:20831000-20868200	Strong transcription	Placenta	Placenta
11	chr14:20831200-20867800	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:20831400-20877000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr14:20832000-20873600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:20832200-20876800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:20832600-20877000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:20833800-20869200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:20834000-20867800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr14:20834000-20868200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:20834000-20868400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:20834000-20870000	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:20834000-20876800	Strong transcription	Adipose Nuclei	Adipose
22	chr14:20834200-20876200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:20834200-20876600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:20834200-20876800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:20834200-20877000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:20834400-20877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:20840200-20869800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:20844400-20876600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:20844600-20869200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:20845600-20877000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:20855000-20875000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:20856600-20876800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:20856600-20877800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr14:20857000-20869600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:20857000-20876800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:20857000-20877000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:20857000-20878000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:20857800-20880200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:20858000-20875800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:20859400-20874400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:20859600-20868800	Weak transcription	Fetal Kidney	kidney
42	chr14:20859600-20876000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:20859800-20880400	Weak transcription	K562	blood
44	chr14:20860200-20868800	Weak transcription	HepG2	liver
45	chr14:20860200-20872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr14:20861000-20868800	Weak transcription	Hela-S3	cervix
47	chr14:20861600-20867400	Strong transcription	Rectal Smooth Muscle	rectum
48	chr14:20861600-20868800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:20861800-20876800	Strong transcription	Thymus	Thymus
50	chr14:20862000-20867800	Strong transcription	HSMM	muscle

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