Variant report

Variant	rs61956469
Chromosome Location	chr13:40149035-40149036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1160321	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17236046	0.82[AMR][1000 genomes]
rs1885758	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2324347	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2324349	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3858867	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4456374	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4941935	0.93[AMR][1000 genomes]
rs4943674	0.95[AMR][1000 genomes]
rs5010893	0.83[AMR][1000 genomes]
rs6563726	0.95[AMR][1000 genomes]
rs6563727	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6563728	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7319551	0.80[EUR][1000 genomes]
rs7324883	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7331023	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7333587	0.83[AMR][1000 genomes]
rs7338428	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7981205	0.85[AMR][1000 genomes]
rs7985507	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7988729	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs912050	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs927515	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9315704	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9315705	0.84[AMR][1000 genomes]
rs9548807	0.95[AMR][1000 genomes]
rs9566448	0.81[AMR][1000 genomes]
rs9566457	0.81[AMR][1000 genomes]
rs9576865	0.82[EUR][1000 genomes]
rs978135	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:40138800-40152800	Weak transcription	Aorta	Aorta
3	chr13:40139200-40158000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:40140000-40169400	Weak transcription	Fetal Stomach	stomach
5	chr13:40140200-40149600	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:40140400-40157800	Weak transcription	Adipose Nuclei	Adipose
7	chr13:40140800-40152800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:40140800-40165400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:40142000-40156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:40142000-40156200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:40142000-40169400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:40142000-40169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:40142200-40150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:40142200-40152600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:40143000-40149400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:40143000-40158200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:40143200-40157800	Weak transcription	NHDF-Ad	bronchial
18	chr13:40143200-40161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:40143200-40170800	Weak transcription	Osteobl	bone
20	chr13:40145600-40153200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:40146000-40149800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:40146000-40152800	Weak transcription	NHLF	lung
23	chr13:40146000-40155400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:40146000-40171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:40146200-40149800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:40146200-40151000	Weak transcription	Ovary	ovary
27	chr13:40146200-40151800	Weak transcription	Lung	lung
28	chr13:40146200-40161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:40146400-40149800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:40146400-40155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:40147000-40149800	Weak transcription	Left Ventricle	heart
32	chr13:40147000-40149800	Weak transcription	Right Atrium	heart
33	chr13:40147000-40153200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:40147000-40162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:40147200-40149200	Weak transcription	Fetal Heart	heart
36	chr13:40148600-40149200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:40148800-40149200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:40148800-40149400	Enhancers	Right Ventricle	heart
39	chr13:40149000-40149200	Enhancers	Fetal Muscle Trunk	muscle
40	chr13:40149000-40151800	Weak transcription	Fetal Lung	lung

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