Variant report

Variant	rs360528
Chromosome Location	chr20:12990837-12990838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs187231	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs189661	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360526	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6134749	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv833923	chr20:12904689-13064426	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr20:12988000-12997600	Weak transcription	Hela-S3	cervix
2	chr20:12989200-12991200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr20:12989200-12991400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:12989400-12991000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr20:12989400-12992000	Active TSS	Fetal Intestine Small	intestine
6	chr20:12989400-12992600	Active TSS	Fetal Intestine Large	intestine
7	chr20:12989600-12991000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr20:12989600-12991000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr20:12989600-12991200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr20:12989600-12991400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:12989600-12991400	Enhancers	Primary B cells from peripheral blood	blood
12	chr20:12989600-12991400	Active TSS	Fetal Brain Male	brain
13	chr20:12989600-12991800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:12989800-12991000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr20:12989800-12991000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr20:12989800-12991000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr20:12989800-12991200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:12989800-12991400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:12990000-12991000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr20:12990000-12991000	Flanking Active TSS	HSMMtube	muscle
21	chr20:12990000-12991200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:12990000-12991200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr20:12990000-12991200	Flanking Active TSS	Osteobl	bone
24	chr20:12990200-12991000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:12990200-12991000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr20:12990200-12991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr20:12990200-12991200	Enhancers	Primary hematopoietic stem cells	blood
28	chr20:12990400-12991200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr20:12990400-12991200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr20:12990400-12991400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:12990400-12991400	Enhancers	Primary B cells from cord blood	blood
32	chr20:12990400-12991400	Flanking Active TSS	Liver	Liver
33	chr20:12990400-12991400	Flanking Active TSS	HMEC	breast
34	chr20:12990400-12994600	Weak transcription	Right Ventricle	heart
35	chr20:12990600-12991000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:12990600-12991000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr20:12990600-12991000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr20:12990600-12991000	Flanking Active TSS	Fetal Thymus	thymus
39	chr20:12990600-12991000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr20:12990600-12991000	Flanking Active TSS	Stomach Mucosa	stomach
41	chr20:12990600-12991000	Flanking Active TSS	HSMM	muscle
42	chr20:12990600-12991000	Flanking Active TSS	NH-A	brain
43	chr20:12990600-12991200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr20:12990600-12991200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:12990600-12991200	Enhancers	Brain Germinal Matrix	brain
46	chr20:12990600-12991200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr20:12990600-12991200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr20:12990600-12991200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr20:12990600-12991200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr20:12990600-12991400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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