Variant report

Variant	rs13147948
Chromosome Location	chr4:174043345-174043346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174042598..174044669-chr4:174157371..174158980,2	K562	blood:
2	chr4:174042321..174044732-chr4:174047198..174049277,2	K562	blood:
3	chr4:174042226..174044748-chr4:174253994..174256729,2	K562	blood:

Variant related genes	Relation type
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10012945	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022143	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725123	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725185	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725544	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728445	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11737666	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114380	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120298	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13121054	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125078	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125357	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131149	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13132608	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138296	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17255483	0.93[CEU][hapmap]
rs28709360	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28735865	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155242	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34215795	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3966013	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4314263	0.89[EUR][1000 genomes]
rs60568577	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62341067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62341069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62343177	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71609810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679498	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv949126	chr4:173466221-174051451	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13147948	NOL4	trans	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174040600-174044200	Enhancers	NHEK	skin
2	chr4:174040600-174044400	Enhancers	Stomach Mucosa	stomach
3	chr4:174040800-174044600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:174041000-174044200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:174041000-174044200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr4:174041200-174044200	Enhancers	Hela-S3	cervix
7	chr4:174041400-174044600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:174041600-174044000	Enhancers	Dnd41	blood
9	chr4:174041600-174044200	Enhancers	Fetal Thymus	thymus
10	chr4:174041600-174044400	Enhancers	Thymus	Thymus
11	chr4:174041800-174044000	Enhancers	Fetal Muscle Leg	muscle
12	chr4:174042000-174044000	Enhancers	K562	blood
13	chr4:174042200-174044200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:174042600-174043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:174042600-174069000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:174042800-174043800	Weak transcription	HMEC	breast
17	chr4:174043000-174043800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:174043000-174044200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:174043200-174044000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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