Variant report

Variant	rs7164289
Chromosome Location	chr15:40880865-40880866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40875697..40878218-chr15:40879677..40882700,3	K562	blood:
2	chr15:40876093..40878968-chr15:40880473..40883736,4	K562	blood:
3	chr15:40845102..40847771-chr15:40879538..40882866,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10400825	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10467972	0.91[EUR][1000 genomes]
rs10744948	0.83[EUR][1000 genomes]
rs11070284	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11629680	0.89[EUR][1000 genomes]
rs11637239	0.82[EUR][1000 genomes]
rs11638204	0.83[EUR][1000 genomes]
rs11854763	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12438955	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12440468	0.91[EUR][1000 genomes]
rs12592882	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12708401	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12899600	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12911738	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12912058	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12912339	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12915109	0.83[EUR][1000 genomes]
rs12916082	0.83[EUR][1000 genomes]
rs1901775	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2278888	0.91[EUR][1000 genomes]
rs2304580	0.81[EUR][1000 genomes]
rs2412541	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2619681	0.84[EUR][1000 genomes]
rs3092978	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34285050	0.84[EUR][1000 genomes]
rs4306472	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4417527	0.84[EUR][1000 genomes]
rs4420508	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4439732	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45457497	0.81[EUR][1000 genomes]
rs4924484	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924487	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4924488	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4924491	0.89[EUR][1000 genomes]
rs4924500	0.84[EUR][1000 genomes]
rs55640412	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6492957	0.86[EUR][1000 genomes]
rs6492958	0.86[EUR][1000 genomes]
rs66885559	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7161938	0.86[EUR][1000 genomes]
rs7161968	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7162319	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7162509	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7167417	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7167768	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7168873	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7171260	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7171945	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7172947	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7176974	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7177192	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7178486	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72733486	0.80[EUR][1000 genomes]
rs8028999	0.91[EUR][1000 genomes]
rs8031057	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8035775	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8037417	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8037804	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8040502	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8041095	0.80[ASN][1000 genomes]
rs8041443	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8042729	0.84[EUR][1000 genomes]
rs896796	0.88[EUR][1000 genomes]
rs936580	0.88[EUR][1000 genomes]
rs9806221	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7164289	RMDN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:20 , 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
20	chr15:40880400-40882000	Weak transcription	Fetal Thymus	thymus

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