Variant report

Variant	rs1042579
Chromosome Location	chr20:23028724-23028725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:22937256..22939082-chr20:23027729..23030001,2	MCF-7	breast:
2	chr20:23028682..23030342-chr20:23324777..23326574,2	MCF-7	breast:
3	chr20:23014536..23017577-chr20:23027797..23030031,3	MCF-7	breast:
4	chr20:23025165..23029019-chr20:23031172..23033319,4	K562	blood:
5	chr20:23027878..23030071-chr20:23034323..23036508,3	MCF-7	breast:
6	chr20:23020985..23023221-chr20:23027756..23029605,2	MCF-7	breast:
7	chr20:23017212..23020123-chr20:23028174..23031939,4	MCF-7	breast:
8	chr20:22981576..22983427-chr20:23027736..23029557,2	MCF-7	breast:
9	chr20:22916739..22919251-chr20:23028353..23030114,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132671	Chromatin interaction
ENSG00000234646	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11905464	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13045080	0.94[EUR][1000 genomes]
rs3176123	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36011369	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs926727	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv482065	chr20:23026271-23030301	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23024600-23031400	Weak transcription	K562	blood
2	chr20:23026000-23032400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:23026600-23029600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr20:23026600-23030400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr20:23026800-23029000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr20:23026800-23032000	Active TSS	Left Ventricle	heart
7	chr20:23027000-23029200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
8	chr20:23027000-23029600	Flanking Active TSS	NHEK	skin
9	chr20:23027400-23031800	Active TSS	Right Atrium	heart
10	chr20:23027400-23032400	Active TSS	Placenta Amnion	Placenta Amnion
11	chr20:23027600-23031800	Active TSS	HSMM	muscle
12	chr20:23027800-23029400	Flanking Active TSS	Lung	lung
13	chr20:23027800-23031200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr20:23028000-23028800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr20:23028000-23029000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:23028000-23029000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr20:23028000-23029000	Flanking Bivalent TSS/Enh	Placenta	Placenta
18	chr20:23028000-23029200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
19	chr20:23028000-23029400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr20:23028000-23029600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:23028000-23029600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:23028000-23029600	Bivalent/Poised TSS	Small Intestine	intestine
23	chr20:23028000-23029800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
24	chr20:23028000-23029800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr20:23028000-23029800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr20:23028000-23029800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr20:23028000-23031200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr20:23028000-23031600	Active TSS	HSMMtube	muscle
29	chr20:23028000-23032200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
30	chr20:23028000-23032800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr20:23028200-23028800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:23028200-23028800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:23028200-23028800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
34	chr20:23028200-23028800	Flanking Active TSS	Psoas Muscle	Psoas
35	chr20:23028200-23028800	Flanking Active TSS	Spleen	Spleen
36	chr20:23028200-23029000	Flanking Active TSS	Esophagus	oesophagus
37	chr20:23028200-23029000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
38	chr20:23028200-23029200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
39	chr20:23028200-23029200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr20:23028200-23029200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr20:23028200-23029200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr20:23028200-23029200	Flanking Active TSS	A549	lung
43	chr20:23028200-23029400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:23028200-23029600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr20:23028200-23029800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
46	chr20:23028200-23029800	Bivalent/Poised TSS	Osteobl	bone
47	chr20:23028200-23030200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr20:23028200-23030600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr20:23028200-23030800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
50	chr20:23028200-23031000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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