Variant report

Variant	rs11217648
Chromosome Location	chr11:119904390-119904391
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	chr11:119898837..119900812-chr11:119902975..119904748,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1010260	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10502234	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10892518	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10892522	0.85[AMR][1000 genomes]
rs10892524	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11217650	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11217651	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217653	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217654	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11493812	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11512472	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11605106	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11607618	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12362929	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12363889	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12365908	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12790374	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12792065	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12799875	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12800482	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12800844	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1452840	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1452841	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1452842	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1939331	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1939333	0.82[AMR][1000 genomes]
rs1939334	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1942011	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1960536	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1989151	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61897925	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs662146	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs675331	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs681454	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs972534	0.88[AMR][1000 genomes];0.83[EUR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119901800-119905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:119902000-119906600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:119902400-119907000	Enhancers	Fetal Muscle Leg	muscle
4	chr11:119902600-119904600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:119903000-119905200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:119903000-119905400	Weak transcription	Brain Anterior Caudate	brain
7	chr11:119903000-119906000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:119903200-119905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:119903400-119905200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:119903600-119905000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:119903800-119905200	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:119904000-119905200	Weak transcription	Brain Germinal Matrix	brain
13	chr11:119904000-119905200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:119904000-119905600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:119904000-119905800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:119904200-119905200	Weak transcription	Brain Cingulate Gyrus	brain

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