Variant report

Variant	rs55748057
Chromosome Location	chr11:17787173-17787174
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56115383	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1038119	chr11:17744915-17794577	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv467718	chr11:17744992-17809724	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv553589	chr11:17744992-17809724	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv516767	chr11:17758587-17809724	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17772400-17790600	Weak transcription	Right Atrium	heart
2	chr11:17773400-17795600	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:17774000-17791600	Weak transcription	Pancreas	Pancrea
4	chr11:17783400-17791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:17784800-17788400	Enhancers	Fetal Brain Male	brain
6	chr11:17785200-17788000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:17785400-17788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:17785600-17788000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17785800-17787400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:17785800-17787800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:17786000-17787600	Weak transcription	Spleen	Spleen
12	chr11:17786000-17788200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:17786200-17788400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:17786400-17788200	Flanking Active TSS	Fetal Brain Female	brain
15	chr11:17786600-17788000	Active TSS	Brain Anterior Caudate	brain
16	chr11:17786800-17787400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:17786800-17787800	Active TSS	Brain Angular Gyrus	brain
18	chr11:17786800-17788000	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr11:17786800-17788200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:17787000-17787200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:17787000-17788000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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