Variant report

Variant	rs74044065
Chromosome Location	chr13:40022138-40022139
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1927201	0.89[ASN][1000 genomes]
rs60449688	1.00[AFR][1000 genomes]
rs7326414	0.89[ASN][1000 genomes]
rs9566420	0.85[EUR][1000 genomes]
rs9566432	0.83[ASN][1000 genomes]
rs9566433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9566434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566437	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576800	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576801	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576802	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576803	0.87[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	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39998000-40022200	Weak transcription	Ovary	ovary
2	chr13:40013400-40026200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:40013800-40023000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:40015000-40023200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:40015200-40023000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:40015200-40023000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:40017600-40023000	Weak transcription	Aorta	Aorta
8	chr13:40017600-40026200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:40019200-40023000	Weak transcription	Psoas Muscle	Psoas
10	chr13:40020800-40023000	Weak transcription	Right Atrium	heart
11	chr13:40020800-40023000	Weak transcription	Right Ventricle	heart
12	chr13:40020800-40026200	Weak transcription	Lung	lung
13	chr13:40021600-40023000	Weak transcription	NHDF-Ad	bronchial
14	chr13:40021800-40027800	Enhancers	Fetal Heart	heart
15	chr13:40022000-40022200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:40022000-40022400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:40022000-40022400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:40022000-40022400	Enhancers	Fetal Muscle Leg	muscle
19	chr13:40022000-40023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:40022000-40023000	Weak transcription	Left Ventricle	heart
21	chr13:40022000-40029200	Weak transcription	Spleen	Spleen

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