Variant report

Variant	rs28601753
Chromosome Location	chr3:43040687-43040688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10470680	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392319	1.00[ASN][1000 genomes]
rs1403525	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074894	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238972	1.00[ASN][1000 genomes]
rs1816227	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28378297	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655956	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673478	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3915020	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489117	1.00[ASN][1000 genomes]
rs530842	1.00[ASN][1000 genomes]
rs534284	1.00[ASN][1000 genomes]
rs551658	1.00[ASN][1000 genomes]
rs604393	1.00[ASN][1000 genomes]
rs60616619	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61004728	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617014	1.00[ASN][1000 genomes]
rs62248962	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249006	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249007	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249008	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249009	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249011	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249013	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249014	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249015	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62249016	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62249584	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651899	1.00[ASN][1000 genomes]
rs6763762	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773223	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775999	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678310	1.00[ASN][1000 genomes]
rs6798412	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798520	0.83[EUR][1000 genomes]
rs680967	1.00[ASN][1000 genomes]
rs681341	1.00[ASN][1000 genomes]
rs6865	1.00[ASN][1000 genomes]
rs73075297	1.00[ASN][1000 genomes]
rs73075301	1.00[ASN][1000 genomes]
rs73077208	1.00[ASN][1000 genomes]
rs73077214	1.00[ASN][1000 genomes]
rs73077238	1.00[ASN][1000 genomes]
rs73087348	1.00[ASN][1000 genomes]
rs735320	1.00[ASN][1000 genomes]
rs73832423	1.00[ASN][1000 genomes]
rs73832424	1.00[ASN][1000 genomes]
rs7617715	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641452	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644923	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311330	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311331	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808932	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815609	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9816391	1.00[ASN][1000 genomes]
rs9824700	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828785	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9832875	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9833284	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9837761	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840349	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9852930	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858270	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862469	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870478	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv460523	chr3:43025986-43063406	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv590150	chr3:43025986-43063406	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43032600-43040800	Weak transcription	Placenta	Placenta
2	chr3:43034200-43043400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:43037200-43044200	Enhancers	Fetal Muscle Leg	muscle
4	chr3:43037800-43044600	Enhancers	Liver	Liver
5	chr3:43038400-43043400	Enhancers	Brain Substantia Nigra	brain
6	chr3:43038600-43040800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:43038600-43040800	Weak transcription	Pancreas	Pancrea
8	chr3:43038800-43040800	Weak transcription	Adipose Nuclei	Adipose
9	chr3:43038800-43040800	Weak transcription	Psoas Muscle	Psoas
10	chr3:43038800-43042400	Weak transcription	Lung	lung
11	chr3:43039200-43040800	Weak transcription	Brain Anterior Caudate	brain
12	chr3:43039200-43041000	Enhancers	Spleen	Spleen
13	chr3:43039400-43040800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:43039400-43042400	Weak transcription	Right Ventricle	heart
15	chr3:43039600-43040800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:43039600-43040800	Weak transcription	Ovary	ovary
17	chr3:43039600-43040800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:43039600-43040800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:43039600-43043200	Weak transcription	Fetal Intestine Small	intestine
20	chr3:43039800-43044200	Enhancers	Brain Hippocampus Middle	brain
21	chr3:43040000-43043600	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:43040000-43044600	Enhancers	Fetal Stomach	stomach
23	chr3:43040200-43041200	Enhancers	Right Atrium	heart
24	chr3:43040200-43043400	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:43040200-43043400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr3:43040200-43044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:43040400-43041800	Enhancers	Fetal Brain Male	brain
28	chr3:43040400-43043200	Enhancers	Rectal Smooth Muscle	rectum
29	chr3:43040400-43044000	Enhancers	Fetal Lung	lung
30	chr3:43040600-43041200	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr3:43040600-43042400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:43040600-43043000	Enhancers	Colon Smooth Muscle	Colon
33	chr3:43040600-43043400	Enhancers	Brain Angular Gyrus	brain

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