Variant report

Variant	rs2424591
Chromosome Location	chr20:23637093-23637094
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr20:23637056-23637445	HepG2	liver:	n/a	chr20:23637235-23637249 chr20:23637236-23637254
2	BACH1	chr20:23637081-23637405	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr20:23637066-23637435	IMR90	lung:	n/a	chr20:23637232-23637252 chr20:23637236-23637246 chr20:23637237-23637252 chr20:23637234-23637250 chr20:23637235-23637249 chr20:23637236-23637245
4	MAFK	chr20:23637054-23637426	K562	blood:	n/a	chr20:23637232-23637252 chr20:23637236-23637246 chr20:23637237-23637252 chr20:23637234-23637250 chr20:23637235-23637249 chr20:23637236-23637245
5	MAFK	chr20:23637053-23637427	HepG2	liver:	n/a	chr20:23637232-23637252 chr20:23637236-23637246 chr20:23637237-23637252 chr20:23637234-23637250 chr20:23637235-23637249 chr20:23637236-23637245
6	MAFK	chr20:23636891-23637633	H1-hESC	embryonic stem cell:	n/a	chr20:23637232-23637252 chr20:23637236-23637246 chr20:23637237-23637252 chr20:23637234-23637250 chr20:23637235-23637249 chr20:23637236-23637245
7	MAFK	chr20:23637038-23637447	HepG2	liver:	n/a	chr20:23637232-23637252 chr20:23637236-23637246 chr20:23637237-23637252 chr20:23637234-23637250 chr20:23637235-23637249 chr20:23637236-23637245

Variant related genes	Relation type
ENSG00000225056	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1884861	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2424590	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424598	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2983608	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3004153	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3004154	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2424591	CST3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23622800-23640000	Weak transcription	Stomach Mucosa	stomach
2	chr20:23628200-23638000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:23633000-23637200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:23633000-23639400	Enhancers	HepG2	liver
5	chr20:23634000-23637400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr20:23634200-23637200	Enhancers	Fetal Muscle Leg	muscle
7	chr20:23634200-23637600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr20:23634800-23638400	Weak transcription	Fetal Intestine Small	intestine
9	chr20:23635000-23637800	Weak transcription	Fetal Intestine Large	intestine
10	chr20:23635200-23637200	Enhancers	Primary B cells from cord blood	blood
11	chr20:23635400-23637200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr20:23635400-23637400	Enhancers	Fetal Lung	lung
13	chr20:23635600-23637400	Enhancers	Spleen	Spleen
14	chr20:23635600-23641600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr20:23636200-23637200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:23636200-23637200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr20:23636200-23637200	Bivalent Enhancer	Fetal Stomach	stomach
18	chr20:23636200-23637200	Enhancers	Lung	lung
19	chr20:23636200-23637400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr20:23636200-23637600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr20:23636200-23638200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:23636400-23637200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr20:23636400-23637200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:23636400-23637200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr20:23636400-23637200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr20:23636400-23637200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr20:23636400-23637200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr20:23636400-23637400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr20:23636400-23637400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:23636400-23637400	Enhancers	Esophagus	oesophagus
31	chr20:23636400-23637400	Enhancers	Right Ventricle	heart
32	chr20:23636400-23638000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr20:23636400-23638000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr20:23636600-23637200	Enhancers	Duodenum Mucosa	Duodenum
35	chr20:23636600-23637400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr20:23636600-23637400	Active TSS	Brain Anterior Caudate	brain
37	chr20:23636600-23637400	Active TSS	Brain Cingulate Gyrus	brain
38	chr20:23636600-23637400	Active TSS	Brain Substantia Nigra	brain
39	chr20:23636600-23638200	Enhancers	Pancreas	Pancrea
40	chr20:23636800-23637200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr20:23636800-23637200	Enhancers	Liver	Liver
42	chr20:23636800-23637200	Enhancers	Left Ventricle	heart
43	chr20:23636800-23637400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr20:23636800-23637400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr20:23636800-23637400	Enhancers	Ovary	ovary
46	chr20:23636800-23638600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr20:23636800-23640600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:23636800-23640800	Weak transcription	Aorta	Aorta
49	chr20:23637000-23637200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr20:23637000-23637200	Enhancers	Right Atrium	heart

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