Variant report

Variant	rs11744148
Chromosome Location	chr5:90229807-90229808
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90229324..90232052-chr5:90677274..90680674,3	K562	blood:
2	chr5:90229341..90230999-chr5:90352904..90354480,2	MCF-7	breast:
3	chr5:90228479..90231902-chr5:90233871..90236526,4	K562	blood:
4	chr5:90224688..90232317-chr5:90673389..90680405,10	MCF-7	breast:
5	chr5:90229167..90233295-chr5:90677274..90680506,5	K562	blood:
6	chr13:32888723..32891125-chr5:90228972..90230998,2	MCF-7	breast:
7	chr5:90226329..90230726-chr5:90675433..90680039,8	MCF-7	breast:
8	chr5:90229213..90231347-chr5:90243310..90245324,2	K562	blood:
9	chr5:90228687..90230986-chr5:90240247..90242261,2	MCF-7	breast:
10	chr5:90229694..90231320-chr5:90235004..90237466,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189167	Chromatin interaction
ENSG00000139618	Chromatin interaction
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10059760	1.00[ASN][1000 genomes]
rs10071548	1.00[ASN][1000 genomes]
rs10942608	1.00[ASN][1000 genomes]
rs12522571	0.90[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17554631	1.00[ASN][1000 genomes]
rs17570760	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17624740	1.00[ASN][1000 genomes]
rs2443086	1.00[ASN][1000 genomes]
rs41308293	1.00[ASN][1000 genomes]
rs57218688	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62375135	1.00[ASN][1000 genomes]
rs62375138	1.00[ASN][1000 genomes]
rs6875416	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784606	1.00[ASN][1000 genomes]
rs73185169	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11744148	NPM1	cis	Cerebellum	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90208000-90231000	Weak transcription	Brain Anterior Caudate	brain
2	chr5:90225600-90232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:90225800-90230200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:90225800-90236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:90225800-90244000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:90226600-90230600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:90226600-90230800	Enhancers	HepG2	liver
8	chr5:90227200-90230000	Enhancers	A549	lung
9	chr5:90228200-90230400	Enhancers	Stomach Mucosa	stomach
10	chr5:90228400-90239200	Weak transcription	Aorta	Aorta
11	chr5:90228600-90235000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:90229000-90230000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:90229200-90230000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:90229200-90230000	Enhancers	Fetal Muscle Leg	muscle
15	chr5:90229400-90233800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:90229400-90235600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:90229600-90230400	Enhancers	Fetal Intestine Large	intestine
18	chr5:90229600-90230400	Enhancers	Fetal Intestine Small	intestine
19	chr5:90229600-90230400	Enhancers	K562	blood
20	chr5:90229600-90230800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:90229600-90230800	Enhancers	Placenta	Placenta
22	chr5:90229800-90235000	Weak transcription	Fetal Kidney	kidney
23	chr5:90229800-90235800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:90229800-90235800	Weak transcription	Fetal Stomach	stomach

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