Variant report

Variant	rs74044032
Chromosome Location	chr13:39925589-39925590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12184886	0.85[ASN][1000 genomes]
rs12429060	0.85[ASN][1000 genomes]
rs17059609	0.81[ASN][1000 genomes]
rs17059622	0.81[ASN][1000 genomes]
rs17059628	0.85[ASN][1000 genomes]
rs2181759	1.00[ASN][1000 genomes]
rs2324253	0.81[ASN][1000 genomes]
rs4640054	1.00[ASN][1000 genomes]
rs56183908	1.00[ASN][1000 genomes]
rs58005196	1.00[ASN][1000 genomes]
rs58551847	0.81[ASN][1000 genomes]
rs59329722	0.81[ASN][1000 genomes]
rs7322559	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7330251	0.85[ASN][1000 genomes]
rs7332991	1.00[ASN][1000 genomes]
rs7334522	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73461781	0.83[EUR][1000 genomes]
rs73467356	1.00[ASN][1000 genomes]
rs73467371	1.00[ASN][1000 genomes]
rs8001763	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39916200-39928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:39916800-39928000	Weak transcription	NHDF-Ad	bronchial
3	chr13:39918200-39928000	Weak transcription	Esophagus	oesophagus
4	chr13:39922200-39925600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:39923000-39926400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:39924000-39926600	Weak transcription	Lung	lung
7	chr13:39924000-39928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:39924200-39925600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:39924800-39925600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:39924800-39925600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr13:39925000-39926200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:39925000-39926200	Weak transcription	Left Ventricle	heart
13	chr13:39925000-39926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:39925000-39928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:39925000-39928000	Weak transcription	Osteobl	bone
16	chr13:39925200-39926200	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:39925200-39926200	Weak transcription	Right Atrium	heart
18	chr13:39925200-39926800	Enhancers	Fetal Heart	heart
19	chr13:39925200-39928000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:39925200-39928600	Weak transcription	Fetal Lung	lung
21	chr13:39925200-39936800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
23	chr13:39925400-39926400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:39925400-39928000	Weak transcription	Adipose Nuclei	Adipose
25	chr13:39925400-39928000	Weak transcription	Right Ventricle	heart
26	chr13:39925400-39929200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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