Variant report

Variant	rs1319166
Chromosome Location	chr11:119942557-119942558
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1010260	0.84[EUR][1000 genomes]
rs10502234	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10892518	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10892523	0.83[ASN][1000 genomes]
rs10892524	0.83[EUR][1000 genomes]
rs10892525	0.96[EUR][1000 genomes]
rs10892527	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11217650	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11217651	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11217653	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11217654	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217662	0.83[ASN][1000 genomes]
rs11217664	0.94[EUR][1000 genomes]
rs11493812	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11512472	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11605106	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11605307	0.96[EUR][1000 genomes]
rs11607618	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11607997	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608135	0.86[AMR][1000 genomes]
rs12362929	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12363889	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12365908	0.88[ASN][1000 genomes]
rs12790374	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12792065	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12799875	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12800482	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12800844	0.82[EUR][1000 genomes]
rs1320685	0.96[ASN][1000 genomes]
rs1452840	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1452841	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1452842	0.83[EUR][1000 genomes]
rs1939331	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939332	0.83[ASN][1000 genomes]
rs1939334	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1942011	0.83[EUR][1000 genomes]
rs1960536	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1989151	0.84[EUR][1000 genomes]
rs4936507	0.91[ASN][1000 genomes]
rs56895810	0.96[ASN][1000 genomes]
rs61897924	0.83[ASN][1000 genomes]
rs61897925	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs662146	0.83[EUR][1000 genomes]
rs675331	0.84[EUR][1000 genomes]
rs681454	0.84[EUR][1000 genomes]
rs965312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972534	0.83[EUR][1000 genomes];0.88[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119935200-119943000	Weak transcription	Brain Angular Gyrus	brain
2	chr11:119938800-119951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:119940200-119943200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:119940400-119943200	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:119940400-119943400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:119940400-119946600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:119942000-119942600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:119942000-119942800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:119942200-119942600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:119942400-119943200	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:119942400-119943600	Enhancers	Brain Substantia Nigra	brain

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