Variant report

Variant	rs3136482
Chromosome Location	chr11:46752958-46752959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10466476	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10466477	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838634	1.00[ASN][1000 genomes]
rs11038985	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038987	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039012	1.00[ASN][1000 genomes]
rs11039015	1.00[ASN][1000 genomes]
rs11822959	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824327	1.00[ASN][1000 genomes]
rs11825434	1.00[ASN][1000 genomes]
rs12273360	1.00[ASN][1000 genomes]
rs12277006	1.00[ASN][1000 genomes]
rs12281784	1.00[ASN][1000 genomes]
rs12287376	1.00[ASN][1000 genomes]
rs12294921	1.00[ASN][1000 genomes]
rs16938534	1.00[ASN][1000 genomes]
rs17787930	1.00[ASN][1000 genomes]
rs2867206	1.00[ASN][1000 genomes]
rs3136433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136443	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136467	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136487	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3136489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136496	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128315	1.00[ASN][1000 genomes]
rs4500447	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311746	1.00[ASN][1000 genomes]
rs56331152	1.00[ASN][1000 genomes]
rs57368576	1.00[ASN][1000 genomes]
rs57485117	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59197251	1.00[ASN][1000 genomes]
rs60940896	1.00[ASN][1000 genomes]
rs61382645	1.00[ASN][1000 genomes]
rs61882744	1.00[ASN][1000 genomes]
rs61882755	1.00[ASN][1000 genomes]
rs61884270	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884297	1.00[ASN][1000 genomes]
rs61884303	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884304	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884305	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884306	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884307	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897302	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897303	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897304	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897308	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61898529	1.00[ASN][1000 genomes]
rs61898531	1.00[ASN][1000 genomes]
rs61899280	1.00[ASN][1000 genomes]
rs61899282	1.00[ASN][1000 genomes]
rs61899283	1.00[ASN][1000 genomes]
rs6485700	1.00[ASN][1000 genomes]
rs6485706	1.00[ASN][1000 genomes]
rs7102325	1.00[ASN][1000 genomes]
rs7102474	1.00[ASN][1000 genomes]
rs7105052	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105172	1.00[ASN][1000 genomes]
rs7105217	1.00[ASN][1000 genomes]
rs7106323	1.00[ASN][1000 genomes]
rs7108147	1.00[ASN][1000 genomes]
rs7111760	1.00[ASN][1000 genomes]
rs7111811	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112060	1.00[ASN][1000 genomes]
rs7112518	1.00[ASN][1000 genomes]
rs7115986	1.00[ASN][1000 genomes]
rs7118097	1.00[ASN][1000 genomes]
rs7120113	1.00[ASN][1000 genomes]
rs7123729	1.00[ASN][1000 genomes]
rs7128102	1.00[ASN][1000 genomes]
rs7129622	1.00[ASN][1000 genomes]
rs73456126	1.00[ASN][1000 genomes]
rs7928445	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938960	1.00[ASN][1000 genomes]
rs7945548	1.00[ASN][1000 genomes]
rs7947517	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9667108	1.00[ASN][1000 genomes]
rs9735937	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46746000-46758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:46746000-46762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:46746200-46761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:46746200-46761400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:46749800-46764000	Weak transcription	Aorta	Aorta
6	chr11:46750000-46762800	Weak transcription	Spleen	Spleen
7	chr11:46751200-46756200	Strong transcription	HepG2	liver
8	chr11:46751200-46760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:46751200-46761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:46751200-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:46751400-46760200	Weak transcription	A549	lung
12	chr11:46751400-46760400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:46751400-46762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:46752000-46756200	Strong transcription	Liver	Liver
15	chr11:46752000-46760200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:46752000-46762800	Weak transcription	Gastric	stomach
17	chr11:46752000-46763400	Weak transcription	Esophagus	oesophagus

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