Variant report

Variant	rs55812595
Chromosome Location	chr3:116161177-116161178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16824895	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56288785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58653611	1.00[AMR][1000 genomes]
rs58682876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73858601	1.00[AMR][1000 genomes]
rs73859213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73859214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73859216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73859217	1.00[AMR][1000 genomes]
rs73861417	1.00[AMR][1000 genomes]
rs73861419	1.00[AMR][1000 genomes]
rs73861420	1.00[AMR][1000 genomes]
rs73861669	1.00[AMR][1000 genomes]
rs73861676	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757886	chr3:116142130-116307542	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759171	chr3:116142130-116307542	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116143400-116161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:116152800-116161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:116152800-116161400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:116153200-116161200	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:116158400-116161800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:116158800-116161600	Enhancers	NH-A	brain
7	chr3:116159000-116163400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:116159200-116161200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:116159400-116161200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:116159400-116161200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:116159600-116161200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:116160200-116162200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:116160400-116161200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:116160400-116165000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:116160600-116161200	Enhancers	Fetal Muscle Trunk	muscle
16	chr3:116160600-116165200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr3:116160800-116162600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:116160800-116164600	Active TSS	Brain Hippocampus Middle	brain
19	chr3:116161000-116161200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:116161000-116161200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:116161000-116161200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:116161000-116161200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:116161000-116161200	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr3:116161000-116161200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr3:116161000-116161200	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr3:116161000-116161200	Active TSS	Fetal Brain Male	brain
27	chr3:116161000-116161200	Bivalent Enhancer	Fetal Lung	lung
28	chr3:116161000-116161400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:116161000-116161400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr3:116161000-116161600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:116161000-116161600	Enhancers	Fetal Stomach	stomach
32	chr3:116161000-116163200	Active TSS	Stomach Smooth Muscle	stomach
33	chr3:116161000-116164000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:116161000-116164600	Active TSS	Rectal Smooth Muscle	rectum
35	chr3:116161000-116164800	Active TSS	Fetal Brain Female	brain
36	chr3:116161000-116165200	Active TSS	Brain Substantia Nigra	brain

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