Variant report

Variant	rs16989310
Chromosome Location	chr22:31472322-31472323
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	chr22:31472050-31472403	HepG2	liver:	n/a	chr22:31472233-31472244 chr22:31472223-31472243 chr22:31472228-31472243 chr22:31472232-31472243 chr22:31472232-31472243 chr22:31472233-31472244 chr22:31472225-31472241 chr22:31472226-31472240
2	MAFK	chr22:31472066-31472408	HepG2	liver:	n/a	chr22:31472233-31472244 chr22:31472223-31472243 chr22:31472228-31472243 chr22:31472232-31472243 chr22:31472232-31472243 chr22:31472233-31472244 chr22:31472225-31472241 chr22:31472226-31472240
3	MAFF	chr22:31472061-31472398	HepG2	liver:	n/a	chr22:31472227-31472245
4	MAFK	chr22:31472059-31472408	IMR90	lung:	n/a	chr22:31472233-31472244 chr22:31472223-31472243 chr22:31472228-31472243 chr22:31472232-31472243 chr22:31472232-31472243 chr22:31472233-31472244 chr22:31472225-31472241 chr22:31472226-31472240

Variant related genes	Relation type
SMTN	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34292278	0.87[AMR][1000 genomes]
rs55830971	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57291990	0.87[AMR][1000 genomes]
rs58671664	0.87[AMR][1000 genomes]
rs58948878	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61124312	0.87[AMR][1000 genomes]
rs73408118	0.87[AMR][1000 genomes]
rs73881317	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:31469800-31472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
5	chr22:31470200-31475000	Weak transcription	Spleen	Spleen
6	chr22:31470800-31472600	Enhancers	Fetal Muscle Leg	muscle
7	chr22:31471200-31472400	Enhancers	Placenta	Placenta
8	chr22:31471200-31473000	Enhancers	Fetal Stomach	stomach
9	chr22:31471200-31473000	Enhancers	Stomach Smooth Muscle	stomach
10	chr22:31471400-31472400	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:31471400-31472600	Enhancers	Adipose Nuclei	Adipose
12	chr22:31471400-31476600	Weak transcription	Left Ventricle	heart
13	chr22:31471600-31472400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:31471600-31472600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:31471600-31472600	Enhancers	Fetal Intestine Large	intestine
16	chr22:31471600-31472600	Enhancers	NHDF-Ad	bronchial
17	chr22:31471800-31472400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:31471800-31472400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr22:31471800-31472400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:31471800-31472400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:31471800-31472400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:31471800-31472400	Enhancers	Ovary	ovary
23	chr22:31471800-31472400	Enhancers	Psoas Muscle	Psoas
24	chr22:31471800-31472400	Enhancers	Stomach Mucosa	stomach
25	chr22:31471800-31472400	Enhancers	HSMM	muscle
26	chr22:31471800-31472400	Enhancers	NHEK	skin
27	chr22:31471800-31472600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:31471800-31472600	Enhancers	Fetal Intestine Small	intestine
29	chr22:31471800-31472600	Enhancers	Right Atrium	heart
30	chr22:31471800-31472600	Enhancers	NHLF	lung
31	chr22:31472000-31472400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:31472000-31472400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:31472000-31472400	Enhancers	Esophagus	oesophagus
34	chr22:31472000-31472600	Enhancers	Colonic Mucosa	Colon
35	chr22:31472000-31476400	Weak transcription	HSMMtube	muscle
36	chr22:31472200-31472400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr22:31472200-31472400	Enhancers	Right Ventricle	heart
38	chr22:31472200-31472600	Enhancers	Fetal Lung	lung
39	chr22:31472200-31472600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr22:31472200-31472600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr22:31472200-31472600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:31472200-31474200	Weak transcription	Osteobl	bone
43	chr22:31472200-31475400	Weak transcription	Lung	lung
44	chr22:31472200-31476200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:31472200-31476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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