Variant report

Variant	rs57594426
Chromosome Location	chr13:40024650-40024651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10492734	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10492735	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10492736	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10492737	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12583299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12583316	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12583320	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12583364	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12583486	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12583593	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12584059	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12584451	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12584721	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12586018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12873765	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17059971	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17059988	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17060000	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17060022	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17068651	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35613729	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59403463	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59798386	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60199520	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73175139	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73175140	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73175141	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73175149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7325544	0.83[EUR][1000 genomes]
rs7990728	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7990910	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7995349	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7996490	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7999971	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8000564	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9888507	0.93[EUR][1000 genomes];0.88[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1011	chr13:40008962-40034177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv561536	chr13:40015948-40043224	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40013400-40026200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:40017600-40026200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:40020800-40026200	Weak transcription	Lung	lung
4	chr13:40021800-40027800	Enhancers	Fetal Heart	heart
5	chr13:40022000-40029200	Weak transcription	Spleen	Spleen
6	chr13:40022400-40025200	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:40022400-40026000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:40022600-40025400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:40023000-40024800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:40023000-40025200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:40023000-40028000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:40023200-40024800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr13:40023200-40025600	Weak transcription	NHDF-Ad	bronchial
14	chr13:40023200-40026400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:40023400-40025000	Weak transcription	Brain Anterior Caudate	brain
16	chr13:40023400-40025200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:40023400-40025200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:40023400-40025600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:40023400-40025600	Weak transcription	Fetal Lung	lung
20	chr13:40023400-40025800	Weak transcription	HSMMtube	muscle
21	chr13:40023400-40026000	Weak transcription	Ovary	ovary
22	chr13:40023400-40026000	Weak transcription	Psoas Muscle	Psoas
23	chr13:40023400-40026200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:40023400-40026200	Weak transcription	Right Atrium	heart
25	chr13:40023400-40026400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:40023400-40026400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr13:40023400-40026600	Weak transcription	Left Ventricle	heart
28	chr13:40023400-40026600	Weak transcription	Right Ventricle	heart
29	chr13:40023400-40035000	Weak transcription	Aorta	Aorta
30	chr13:40023800-40025600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:40023800-40026200	Weak transcription	Brain Substantia Nigra	brain
32	chr13:40023800-40026400	Weak transcription	Brain Angular Gyrus	brain
33	chr13:40024000-40025400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:40024000-40028000	Enhancers	Brain Hippocampus Middle	brain
35	chr13:40024400-40025000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:40024400-40025600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:40024600-40024800	Enhancers	GM12878-XiMat	blood
38	chr13:40024600-40025400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr13:40024600-40025600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:40024600-40027200	Enhancers	Brain Cingulate Gyrus	brain
41	chr13:40024600-40027400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr13:40024600-40027600	Enhancers	Adipose Nuclei	Adipose
43	chr13:40024600-40028000	Enhancers	Colon Smooth Muscle	Colon
44	chr13:40024600-40028200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:40024600-40028200	Enhancers	Skeletal Muscle Male	skeletal muscle

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