Variant report

Variant	rs5749457
Chromosome Location	chr22:32935403-32935404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32933708..32937841-chr22:33196276..33199119,4	MCF-7	breast:
2	chr22:32928103..32930722-chr22:32934980..32936586,2	MCF-7	breast:
3	chr22:32935341..32940851-chr22:32952313..32956913,8	MCF-7	breast:
4	chr22:32934249..32936537-chr22:32956952..32958878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs135123	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs135474	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs135476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs135478	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[ASN][1000 genomes]
rs135480	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs135483	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2105865	0.84[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs2213405	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2251400	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2710380	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2858339	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5754137	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[ASN][1000 genomes]
rs5754138	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[ASN][1000 genomes]
rs5754139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs762909	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609593	0.94[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	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5749457	DUSP18	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32928400-32935800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:32928400-32935800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr22:32928400-32937600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:32928600-32935600	Weak transcription	Fetal Intestine Large	intestine
5	chr22:32929000-32940800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:32929800-32935800	Weak transcription	Spleen	Spleen
7	chr22:32930800-32936200	Weak transcription	Colonic Mucosa	Colon
8	chr22:32931000-32935600	Weak transcription	Liver	Liver
9	chr22:32931000-32935800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr22:32931000-32936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:32931000-32937800	Weak transcription	Pancreas	Pancrea
12	chr22:32931000-32938200	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:32931000-32938200	Weak transcription	Gastric	stomach
14	chr22:32931200-32937800	Weak transcription	Fetal Lung	lung
15	chr22:32932200-32935800	Weak transcription	Left Ventricle	heart
16	chr22:32932200-32935800	Weak transcription	Right Ventricle	heart
17	chr22:32932800-32937800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr22:32934200-32942200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:32934400-32936800	Enhancers	HepG2	liver
20	chr22:32934400-32937200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr22:32934600-32936800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:32934800-32936600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:32934800-32937400	Enhancers	Hela-S3	cervix
24	chr22:32934800-32938400	Enhancers	Adipose Nuclei	Adipose
25	chr22:32934800-32939400	Enhancers	Fetal Muscle Leg	muscle
26	chr22:32935200-32935600	Enhancers	Fetal Heart	heart
27	chr22:32935200-32935600	Weak transcription	Right Atrium	heart
28	chr22:32935200-32935800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:32935200-32936600	Enhancers	K562	blood
30	chr22:32935200-32942800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:32935400-32936400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:32935400-32936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:32935400-32936600	Enhancers	Placenta	Placenta
34	chr22:32935400-32936800	Enhancers	Fetal Muscle Trunk	muscle
35	chr22:32935400-32938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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