Variant report

Variant	rs12588213
Chromosome Location	chr14:20779176-20779177
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20773455..20775482-chr14:20777185..20779716,2	K562	blood:

Variant related genes	Relation type
ENSG00000258459	Chromatin interaction
ENSG00000136319	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1000608	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1132644	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11845291	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11848535	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12889262	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12890140	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1889361	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1953549	0.88[ASN][1000 genomes]
rs1953552	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2001572	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28500547	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3784244	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4451865	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981975	0.83[ASN][1000 genomes]
rs6575132	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7160770	0.84[ASN][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	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	71 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20779400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:20774200-20779400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:20774200-20779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:20774200-20779400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:20774200-20779400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:20774200-20779400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:20774200-20779400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:20774200-20779400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:20774200-20779400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:20774200-20779400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:20774200-20779400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:20774200-20779400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:20774200-20779400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:20774200-20779400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:20774200-20779400	Weak transcription	Fetal Stomach	stomach
16	chr14:20774200-20779400	Weak transcription	Left Ventricle	heart
17	chr14:20774200-20779400	Weak transcription	Lung	lung
18	chr14:20774200-20779400	Weak transcription	HSMMtube	muscle
19	chr14:20774200-20779400	Weak transcription	Osteobl	bone
20	chr14:20774200-20779600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:20774200-20779600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:20774200-20779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:20774200-20779600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:20774200-20779600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:20774200-20779600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:20774200-20779600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:20774200-20779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:20774200-20779600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:20774200-20779600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:20774200-20779600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:20774200-20779600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:20774200-20779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:20774200-20779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:20774200-20779600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:20774200-20779600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:20774200-20779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:20774200-20779600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:20774200-20779600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:20774200-20779600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:20774200-20779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:20774200-20779600	Weak transcription	Liver	Liver
42	chr14:20774200-20779600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:20774200-20779600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:20774200-20779600	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:20774200-20779600	Weak transcription	Fetal Thymus	thymus
46	chr14:20774200-20779600	Weak transcription	Ovary	ovary
47	chr14:20774200-20779600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:20774200-20779600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:20774200-20779600	Weak transcription	GM12878-XiMat	blood
50	chr14:20774200-20779600	Weak transcription	HSMM	muscle

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