Variant report

Variant	rs17123510
Chromosome Location	chr11:119845628-119845629
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10892503	0.82[ASN][1000 genomes]
rs1108315	1.00[EUR][1000 genomes]
rs11217593	0.88[ASN][1000 genomes]
rs11217596	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11217597	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11217604	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217611	1.00[EUR][1000 genomes]
rs11217614	1.00[EUR][1000 genomes]
rs11217615	1.00[EUR][1000 genomes]
rs11217619	1.00[EUR][1000 genomes]
rs11217624	1.00[EUR][1000 genomes]
rs11217626	1.00[EUR][1000 genomes]
rs11217628	1.00[EUR][1000 genomes]
rs12224282	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12573850	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12574341	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12574743	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12575504	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12576429	1.00[EUR][1000 genomes]
rs12576741	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36015387	1.00[EUR][1000 genomes]
rs56683142	1.00[EUR][1000 genomes]
rs58861512	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60280067	1.00[EUR][1000 genomes]
rs72645469	0.91[ASN][1000 genomes]
rs72645470	0.98[ASN][1000 genomes]
rs72645471	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72645472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645473	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645474	1.00[EUR][1000 genomes]
rs72645475	1.00[EUR][1000 genomes]
rs72645476	1.00[EUR][1000 genomes]
rs72645477	1.00[EUR][1000 genomes]
rs7931873	0.80[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119844200-119846200	Enhancers	Fetal Muscle Trunk	muscle
2	chr11:119844200-119847800	Enhancers	Fetal Muscle Leg	muscle
3	chr11:119844200-119849600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:119844400-119846000	Enhancers	Brain Anterior Caudate	brain
5	chr11:119844400-119846200	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:119844400-119846200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:119844400-119846400	Enhancers	Brain Angular Gyrus	brain
8	chr11:119844400-119846600	Enhancers	Brain Hippocampus Middle	brain
9	chr11:119844400-119846600	Enhancers	Brain Substantia Nigra	brain
10	chr11:119844400-119847000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:119844400-119847000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:119844400-119847200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:119844600-119846000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:119844600-119846200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:119844600-119846800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:119844600-119846800	Enhancers	Adipose Nuclei	Adipose
17	chr11:119844600-119847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:119844600-119847400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:119844800-119845800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:119844800-119846200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:119845200-119846200	Enhancers	Fetal Stomach	stomach
22	chr11:119845200-119846200	Weak transcription	Right Atrium	heart
23	chr11:119845200-119846400	Weak transcription	Psoas Muscle	Psoas
24	chr11:119845200-119847200	Enhancers	Fetal Brain Male	brain
25	chr11:119845200-119847800	Enhancers	Brain Germinal Matrix	brain
26	chr11:119845400-119846000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr11:119845400-119846400	Weak transcription	Fetal Brain Female	brain
28	chr11:119845400-119846800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr11:119845600-119847000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:119845600-119847000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:119845600-119847000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr11:119845600-119847200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr11:119845600-119847800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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