Variant report

Variant	rs6131453
Chromosome Location	chr20:13202959-13202960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59258634	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6105049	1.00[EUR][1000 genomes]
rs6131446	0.87[ASN][1000 genomes]
rs6131449	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6134806	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6134808	0.85[ASN][1000 genomes]
rs6134814	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6134815	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6134818	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6134819	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6134821	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv912684	chr20:12734299-13311983	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1067036	chr20:12737436-13338337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3488304	chr20:12738054-13341279	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3488305	chr20:12738054-13341279	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv518184	chr20:12743808-13344672	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1063587	chr20:12756524-13330103	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544185	chr20:12756524-13330103	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv916296	chr20:12756605-13329940	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1067720	chr20:12756725-13329963	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv532513	chr20:12756725-13329963	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1064901	chr20:12773504-13318421	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv912685	chr20:13134768-13234124	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3386643	chr20:13201202-13203450	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13199800-13203400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr20:13199800-13203600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr20:13200000-13203000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:13200000-13203600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr20:13200000-13203600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr20:13200000-13203600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr20:13200200-13203000	Active TSS	Aorta	Aorta
8	chr20:13200200-13203200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:13200200-13203200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr20:13200600-13203600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr20:13200800-13203000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:13200800-13203200	Active TSS	Brain Angular Gyrus	brain
13	chr20:13201400-13203000	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr20:13201400-13203200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr20:13201600-13204200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:13201800-13203200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:13202000-13203000	Bivalent/Poised TSS	HSMMtube	muscle
18	chr20:13202400-13203000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr20:13202400-13203000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr20:13202400-13203000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr20:13202400-13203000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr20:13202400-13203000	Flanking Active TSS	Lung	lung
23	chr20:13202400-13203000	Flanking Active TSS	Pancreas	Pancrea
24	chr20:13202400-13203000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr20:13202400-13203000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr20:13202400-13203000	Bivalent Enhancer	Stomach Mucosa	stomach
27	chr20:13202400-13203000	Flanking Bivalent TSS/Enh	Thymus	Thymus
28	chr20:13202400-13203000	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr20:13202400-13203000	Flanking Active TSS	HMEC	breast
30	chr20:13202400-13203000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
31	chr20:13202400-13203000	Flanking Bivalent TSS/Enh	NHLF	lung
32	chr20:13202400-13203200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr20:13202400-13203200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr20:13202400-13203200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:13202400-13203200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr20:13202400-13203200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr20:13202400-13203200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr20:13202400-13203400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr20:13202400-13203600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr20:13202400-13203600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr20:13202400-13203600	Flanking Active TSS	Dnd41	blood
42	chr20:13202600-13203000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr20:13202600-13203000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr20:13202600-13203000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr20:13202600-13203000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
46	chr20:13202600-13203000	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
47	chr20:13202600-13203000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:13202600-13203000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
49	chr20:13202600-13203000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr20:13202600-13203000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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