Variant report

Variant	rs55681309
Chromosome Location	chr3:112962982-112962983
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11923623	1.00[EUR][1000 genomes]
rs16860704	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860739	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860784	1.00[EUR][1000 genomes]
rs16860788	1.00[EUR][1000 genomes]
rs17255413	0.97[EUR][1000 genomes]
rs17320507	0.92[ASN][1000 genomes]
rs3814401	1.00[EUR][1000 genomes]
rs3814405	1.00[EUR][1000 genomes]
rs41374946	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55681380	1.00[EUR][1000 genomes]
rs55744928	0.82[EUR][1000 genomes]
rs55888075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969905	1.00[EUR][1000 genomes]
rs56130902	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs775221	1.00[EUR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112951200-112967000	Weak transcription	Colonic Mucosa	Colon
3	chr3:112953800-112965600	Weak transcription	Right Atrium	heart
4	chr3:112954200-112965600	Weak transcription	Brain Substantia Nigra	brain
5	chr3:112958400-112963000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:112958600-112969000	Weak transcription	Spleen	Spleen
7	chr3:112959600-112963000	Enhancers	Fetal Brain Male	brain
8	chr3:112959800-112963000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:112960400-112965800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:112960800-112963400	Weak transcription	Fetal Heart	heart
11	chr3:112960800-112964600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:112960800-112965600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:112960800-112965600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:112960800-112967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:112961000-112965600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:112961200-112963000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:112961200-112964200	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:112961200-112964400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:112961400-112963000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:112961400-112963000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:112961400-112963200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:112961400-112964200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:112961400-112964400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:112961400-112964600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:112961400-112964600	Weak transcription	HSMMtube	muscle
26	chr3:112961400-112964600	Weak transcription	NHLF	lung
27	chr3:112961400-112965600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:112961400-112969400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:112961600-112963600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:112961600-112963600	Weak transcription	Fetal Lung	lung
31	chr3:112961600-112964400	Enhancers	NHDF-Ad	bronchial
32	chr3:112961600-112965600	Weak transcription	Brain Angular Gyrus	brain
33	chr3:112961600-112966400	Weak transcription	Fetal Thymus	thymus
34	chr3:112961600-112967400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:112961600-112983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:112961800-112963000	Enhancers	Ovary	ovary
37	chr3:112961800-112963200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:112961800-112964000	Weak transcription	HSMM	muscle
39	chr3:112961800-112964200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:112961800-112964200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:112961800-112964200	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:112961800-112964200	Weak transcription	Fetal Brain Female	brain
43	chr3:112961800-112964200	Weak transcription	Fetal Stomach	stomach
44	chr3:112961800-112964400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:112961800-112965400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:112961800-112965600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:112962000-112963400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:112962000-112964200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:112962000-112964400	Weak transcription	NHEK	skin
50	chr3:112962000-112965600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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