Variant report

Variant	rs4814491
Chromosome Location	chr20:16391437-16391438
allele	C/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	MAFK	chr20:16391287-16391643	IMR90	lung:	n/a	n/a
2	MAFK	chr20:16391289-16391655	HepG2	liver:	n/a	n/a
3	MAFK	chr20:16391346-16391546	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr20:16391291-16391651	HepG2	liver:	n/a	n/a
5	MAFK	chr20:16391335-16391775	K562	blood:	n/a	n/a
6	MAFF	chr20:16391289-16391650	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000221448	TF binding region

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1012904	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1012905	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1884660	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2144942	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2144944	0.81[ASN][1000 genomes]
rs2273425	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4332991	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4814495	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6043937	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6080256	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6105596	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6111101	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6111102	0.86[ASN][1000 genomes]
rs6111113	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs761901	0.85[AMR][1000 genomes];0.88[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	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3330668	chr20:16389777-16392025	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16346600-16393600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr20:16347600-16392000	Weak transcription	Fetal Kidney	kidney
3	chr20:16372600-16404600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr20:16375400-16392600	Weak transcription	NH-A	brain
5	chr20:16375400-16396400	Weak transcription	Stomach Mucosa	stomach
6	chr20:16378000-16404400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:16378800-16393400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr20:16379000-16392800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr20:16379200-16395800	Weak transcription	NHDF-Ad	bronchial
10	chr20:16381400-16399200	Weak transcription	HMEC	breast
11	chr20:16384000-16432600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr20:16385200-16404200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr20:16385400-16404200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr20:16386200-16404400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr20:16386400-16398600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr20:16386400-16404200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr20:16387000-16393000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:16387000-16399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr20:16387000-16399000	Weak transcription	Liver	Liver
20	chr20:16387000-16399000	Weak transcription	Pancreas	Pancrea
21	chr20:16387000-16399400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr20:16387000-16403000	Weak transcription	Fetal Stomach	stomach
23	chr20:16387000-16404200	Weak transcription	Gastric	stomach
24	chr20:16387000-16406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr20:16387200-16391800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr20:16387200-16399600	Weak transcription	NHEK	skin
27	chr20:16387400-16392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:16387400-16404000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr20:16387400-16404400	Weak transcription	Esophagus	oesophagus
30	chr20:16387400-16411800	Weak transcription	Colonic Mucosa	Colon
31	chr20:16388800-16399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr20:16389400-16396200	Weak transcription	HepG2	liver
33	chr20:16389600-16404200	Weak transcription	A549	lung
34	chr20:16391000-16401800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr20:16391200-16391800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr20:16391200-16392000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr20:16391200-16392000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:16391200-16392000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:16391200-16392000	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr20:16391200-16392000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr20:16391200-16392200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr20:16391200-16392400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:16391200-16392400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr20:16391200-16392400	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr20:16391200-16392400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr20:16391200-16392400	ZNF genes & repeats	Fetal Heart	heart
47	chr20:16391200-16392400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
48	chr20:16391200-16393000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr20:16391200-16393000	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr20:16391200-16393000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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