Variant report

Variant	rs73140912
Chromosome Location	chr3:115854750-115854751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12485667	0.80[EUR][1000 genomes]
rs12486465	0.80[EUR][1000 genomes]
rs12488904	0.85[EUR][1000 genomes]
rs1381065	0.94[ASN][1000 genomes]
rs1461110	0.91[ASN][1000 genomes]
rs1461112	0.94[ASN][1000 genomes]
rs1461113	0.94[ASN][1000 genomes]
rs1461117	0.80[EUR][1000 genomes]
rs1461138	0.80[EUR][1000 genomes]
rs1563933	0.94[ASN][1000 genomes]
rs16824478	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16824495	0.85[EUR][1000 genomes]
rs17631108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17643878	0.81[EUR][1000 genomes]
rs17698500	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17699134	0.84[ASN][1000 genomes]
rs1920363	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1920365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1920367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1920370	0.99[ASN][1000 genomes]
rs1920375	1.00[ASN][1000 genomes]
rs1950085	0.94[ASN][1000 genomes]
rs2141628	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34424845	0.87[EUR][1000 genomes]
rs4146782	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4261878	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4511899	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560296	0.94[ASN][1000 genomes]
rs57196061	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57425502	0.94[ASN][1000 genomes]
rs62269187	0.94[ASN][1000 genomes]
rs67278926	0.84[EUR][1000 genomes]
rs67853012	0.85[EUR][1000 genomes]
rs73140910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140911	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140921	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7614089	0.80[EUR][1000 genomes]
rs7639126	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7639609	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2751975	chr3:115766285-115902901	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2755046	chr3:115818840-115942952	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv591345	chr3:115819376-115902901	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2752728	chr3:115833212-115902901	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115851400-115858400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:115853200-115855800	Enhancers	Rectal Smooth Muscle	rectum
3	chr3:115853200-115856200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr3:115853400-115856000	Enhancers	Colon Smooth Muscle	Colon
5	chr3:115853400-115859000	Enhancers	Brain Substantia Nigra	brain
6	chr3:115853600-115856400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:115853800-115854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:115853800-115854800	Enhancers	Brain Germinal Matrix	brain
9	chr3:115853800-115855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:115853800-115855800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:115854000-115854800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:115854000-115854800	Flanking Active TSS	Fetal Lung	lung
13	chr3:115854000-115854800	Enhancers	HSMM	muscle
14	chr3:115854000-115854800	Enhancers	NHDF-Ad	bronchial
15	chr3:115854000-115855000	Enhancers	Fetal Kidney	kidney
16	chr3:115854000-115855200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:115854000-115855200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr3:115854000-115856000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:115854000-115857000	Enhancers	Brain Angular Gyrus	brain
20	chr3:115854000-115858400	Enhancers	Brain Hippocampus Middle	brain
21	chr3:115854200-115854800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:115854200-115854800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:115854200-115854800	Enhancers	Adipose Nuclei	Adipose
24	chr3:115854200-115855000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr3:115854200-115855400	Enhancers	Fetal Stomach	stomach
26	chr3:115854200-115857000	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:115854200-115861200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:115854400-115854800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr3:115854400-115854800	Enhancers	Osteobl	bone
30	chr3:115854400-115855200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:115854600-115855000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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