Variant report

Variant	rs1814542
Chromosome Location	chr15:40879108-40879109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40857525..40859323-chr15:40878424..40880579,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10518697	0.81[EUR][1000 genomes]
rs1058734	0.82[ASN][1000 genomes]
rs11070283	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11630273	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11633184	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11637422	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12324748	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12913739	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12915171	0.82[ASN][1000 genomes]
rs12915636	0.80[EUR][1000 genomes]
rs17674454	0.81[EUR][1000 genomes]
rs17747423	0.81[EUR][1000 genomes]
rs17747633	0.81[EUR][1000 genomes]
rs1814541	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2412525	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28669075	0.82[ASN][1000 genomes]
rs35842610	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62019876	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62019879	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7170288	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs1814542	RP11-111A22.1	cis	Artery Tibial	GTEx
rs1814542	C15orf57	cis	Stomach	GTEx
rs1814542	RP11-111A22.1	cis	lung	GTEx
rs1814542	C15orf57	cis	Muscle Skeletal	GTEx
rs1814542	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs1814542	RP11-111A22.1	cis	Heart Left Ventricle	GTEx
rs1814542	C15orf57	cis	Heart Left Ventricle	GTEx
rs1814542	C15orf57	cis	Esophagus Mucosa	GTEx
rs1814542	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs1814542	C15orf57	cis	Nerve Tibial	GTEx
rs1814542	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs1814542	C15orf57	cis	Esophagus Muscularis	GTEx
rs1814542	C15orf57	cis	Artery Aorta	GTEx
rs1814542	C15orf57	cis	Adipose Subcutaneous	GTEx
rs1814542	C15orf57	cis	lung	GTEx
rs1814542	C15orf57	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40866600-40881800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:40866600-40881800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:40866600-40881800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:40867400-40883600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:40875400-40881600	Weak transcription	Brain Anterior Caudate	brain
6	chr15:40875400-40881800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:40875400-40882000	Weak transcription	Primary B cells from cord blood	blood
8	chr15:40875600-40881800	Weak transcription	Brain Substantia Nigra	brain
9	chr15:40875600-40882200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr15:40875600-40882200	Weak transcription	Fetal Intestine Small	intestine
11	chr15:40875600-40882200	Weak transcription	Right Atrium	heart
12	chr15:40876600-40882200	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:40876800-40881800	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:40876800-40881800	Weak transcription	K562	blood
15	chr15:40877000-40881600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:40877200-40881600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:40877200-40881800	Weak transcription	Hela-S3	cervix
18	chr15:40877200-40882200	Weak transcription	Liver	Liver
19	chr15:40877600-40882200	Weak transcription	HepG2	liver

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