Variant report

Variant	rs2034792
Chromosome Location	chr11:16130815-16130816
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	chr11:16130157..16133054-chr11:16135453..16138445,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10500822	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10500823	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10500824	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10500825	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12573976	0.80[ASN][1000 genomes]
rs12574107	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12575408	0.80[ASN][1000 genomes]
rs12575412	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577495	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12577528	0.80[ASN][1000 genomes]
rs1378308	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1455101	0.80[ASN][1000 genomes]
rs1598296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16932573	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932585	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16932622	0.80[ASN][1000 genomes]
rs16932625	0.80[ASN][1000 genomes]
rs16932630	0.80[ASN][1000 genomes]
rs16932634	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs16932650	0.80[ASN][1000 genomes]
rs16932653	0.80[ASN][1000 genomes]
rs16932655	0.80[ASN][1000 genomes]
rs16932664	0.80[ASN][1000 genomes]
rs1840422	0.80[ASN][1000 genomes]
rs1840423	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1840424	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1960271	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2351681	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2351682	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2351955	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2935046	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35972839	0.80[ASN][1000 genomes]
rs4279976	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4506613	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55689121	0.80[ASN][1000 genomes]
rs59412323	0.80[ASN][1000 genomes]
rs59583634	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61094171	0.81[AFR][1000 genomes]
rs61347512	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7107697	0.80[ASN][1000 genomes]
rs7110987	0.80[ASN][1000 genomes]
rs7114427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126432	0.80[ASN][1000 genomes]
rs7946235	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7947337	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7947622	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs966933	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs993698	0.80[ASN][1000 genomes]
rs996184	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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	nsv553562	chr11:16112180-16220289	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16098600-16137000	Weak transcription	Pancreas	Pancrea
2	chr11:16121600-16135400	Weak transcription	Fetal Intestine Large	intestine
3	chr11:16121800-16136800	Weak transcription	Small Intestine	intestine
4	chr11:16122400-16132400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:16127400-16133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:16127400-16136000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:16128200-16132400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:16128400-16133200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:16128600-16132400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:16128600-16133200	Weak transcription	Psoas Muscle	Psoas
11	chr11:16130400-16133200	Weak transcription	Left Ventricle	heart
12	chr11:16130800-16131000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:16130800-16131000	Enhancers	Esophagus	oesophagus
14	chr11:16130800-16131000	Enhancers	Right Atrium	heart
15	chr11:16130800-16131200	Strong transcription	Fetal Intestine Small	intestine
16	chr11:16130800-16132200	Enhancers	Liver	Liver

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