Variant report

Variant	rs2682911
Chromosome Location	chr15:77875591-77875592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77874644..77877112-chr15:77878679..77882430,3	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs11072658	0.81[EUR][1000 genomes]
rs11854591	0.85[EUR][1000 genomes]
rs11856468	0.80[EUR][1000 genomes]
rs11857746	0.92[EUR][1000 genomes]
rs11857779	0.83[EUR][1000 genomes]
rs12438314	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12591110	0.81[EUR][1000 genomes]
rs12593111	0.81[ASN][1000 genomes]
rs12594829	0.87[EUR][1000 genomes]
rs12906211	0.94[EUR][1000 genomes]
rs16968985	0.87[EUR][1000 genomes]
rs2460770	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2667758	0.94[EUR][1000 genomes]
rs2667759	0.94[EUR][1000 genomes]
rs2667760	0.96[EUR][1000 genomes]
rs2667761	0.97[EUR][1000 genomes]
rs2667762	0.97[EUR][1000 genomes]
rs2667763	0.98[EUR][1000 genomes]
rs2667766	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2667768	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2667769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2667770	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2667771	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2667772	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2667773	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667774	0.80[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2667776	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2667777	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2667778	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2667779	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2667780	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2667784	0.92[EUR][1000 genomes]
rs2682904	0.93[EUR][1000 genomes]
rs2682905	0.95[EUR][1000 genomes]
rs2682906	0.96[EUR][1000 genomes]
rs2682907	0.95[EUR][1000 genomes]
rs2682908	0.97[EUR][1000 genomes]
rs2682909	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2682912	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682913	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2682914	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2682915	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682916	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682918	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682919	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682920	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682923	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2682925	0.80[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2682926	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2682928	0.92[EUR][1000 genomes]
rs28393270	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28612444	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28641836	0.92[EUR][1000 genomes]
rs35971869	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3743481	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs55745559	0.82[EUR][1000 genomes]
rs55808627	0.86[EUR][1000 genomes]
rs55978935	0.82[EUR][1000 genomes]
rs56182742	0.87[EUR][1000 genomes]
rs56188061	0.82[EUR][1000 genomes]
rs56381229	0.82[EUR][1000 genomes]
rs58102377	0.80[EUR][1000 genomes]
rs58600827	0.94[EUR][1000 genomes]
rs59235404	0.95[EUR][1000 genomes]
rs59391831	0.95[EUR][1000 genomes]
rs60440781	0.95[EUR][1000 genomes]
rs61240175	0.95[EUR][1000 genomes]
rs7179753	0.82[EUR][1000 genomes]
rs8033468	0.82[EUR][1000 genomes]
rs8034247	0.82[EUR][1000 genomes]
rs8037691	0.82[EUR][1000 genomes]
rs867908	0.97[EUR][1000 genomes]
rs867917	0.97[EUR][1000 genomes]
rs867918	0.97[EUR][1000 genomes]
rs868297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868299	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs884141	0.97[EUR][1000 genomes]
rs907378	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907379	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907380	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907381	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs907382	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs907384	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs907389	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs939486	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs939487	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs939491	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs939492	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs939493	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9806723	0.91[EUR][1000 genomes]
rs9806734	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1043284	chr15:77740632-77884026	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv904415	chr15:77845959-77943935	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv904417	chr15:77851535-77935992	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv904418	chr15:77851535-77963887	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2682911	UBL7	cis	cerebellum	SCAN
rs2682911	C15orf17	cis	cerebellum	SCAN
rs2682911	CYP1A2	cis	cerebellum	SCAN
rs2682911	UBE2Q2	cis	cerebellum	SCAN
rs2682911	MPI	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77870200-77876600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:77870400-77876600	Weak transcription	Fetal Heart	heart
3	chr15:77871400-77876600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:77872800-77875800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:77873000-77875800	Enhancers	Fetal Muscle Leg	muscle
6	chr15:77874400-77877000	Enhancers	Fetal Intestine Small	intestine
7	chr15:77874600-77881000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:77874800-77876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:77875000-77875600	Enhancers	Left Ventricle	heart
10	chr15:77875000-77875600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr15:77875000-77875600	Enhancers	Right Atrium	heart
12	chr15:77875000-77876000	Enhancers	Fetal Intestine Large	intestine
13	chr15:77875000-77876400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:77875200-77875600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr15:77875200-77875600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:77875200-77875600	Enhancers	Right Ventricle	heart
17	chr15:77875400-77881400	Weak transcription	Brain Hippocampus Middle	brain

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