Variant report

Variant	rs17123513
Chromosome Location	chr11:119846442-119846443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12421491	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17123506	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56993455	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59253729	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60972271	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7130104	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119844200-119847800	Enhancers	Fetal Muscle Leg	muscle
2	chr11:119844200-119849600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:119844400-119846600	Enhancers	Brain Hippocampus Middle	brain
4	chr11:119844400-119846600	Enhancers	Brain Substantia Nigra	brain
5	chr11:119844400-119847000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:119844400-119847000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:119844400-119847200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:119844600-119846800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:119844600-119846800	Enhancers	Adipose Nuclei	Adipose
10	chr11:119844600-119847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:119844600-119847400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:119845200-119847200	Enhancers	Fetal Brain Male	brain
13	chr11:119845200-119847800	Enhancers	Brain Germinal Matrix	brain
14	chr11:119845400-119846800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr11:119845600-119847000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:119845600-119847000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:119845600-119847000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr11:119845600-119847200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr11:119845600-119847800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:119845800-119846800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:119845800-119847000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:119846000-119846600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:119846000-119846800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr11:119846000-119846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:119846000-119846800	Enhancers	Fetal Heart	heart
26	chr11:119846000-119847000	Weak transcription	Brain Anterior Caudate	brain
27	chr11:119846200-119846600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr11:119846200-119846800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr11:119846200-119846800	Genic enhancers	Right Atrium	heart
30	chr11:119846200-119847000	Bivalent Enhancer	Fetal Stomach	stomach
31	chr11:119846200-119847600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:119846200-119850400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:119846200-119853000	Enhancers	Fetal Intestine Large	intestine
34	chr11:119846400-119846800	Enhancers	Fetal Brain Female	brain
35	chr11:119846400-119847000	Active TSS	Brain Angular Gyrus	brain
36	chr11:119846400-119847000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr11:119846400-119847800	Active TSS	Brain Cingulate Gyrus	brain
38	chr11:119846400-119853000	Enhancers	Fetal Intestine Small	intestine

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