Variant report

Variant	rs73264219
Chromosome Location	chr5:146809453-146809454
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12655492	0.80[AMR][1000 genomes]
rs12657083	0.95[AMR][1000 genomes]
rs12657176	0.95[AMR][1000 genomes]
rs17096661	0.89[ASN][1000 genomes]
rs17106723	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17106725	0.89[ASN][1000 genomes]
rs17106726	0.89[ASN][1000 genomes]
rs2163767	0.89[ASN][1000 genomes]
rs2241696	0.89[ASN][1000 genomes]
rs55689104	0.85[AMR][1000 genomes]
rs58013114	0.89[ASN][1000 genomes]
rs58995894	0.90[AMR][1000 genomes]
rs59892472	0.85[AMR][1000 genomes]
rs73264220	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146769800-146810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:146770200-146810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:146797200-146810800	Weak transcription	Brain Anterior Caudate	brain
4	chr5:146797400-146810800	Weak transcription	Spleen	Spleen
5	chr5:146797800-146811200	Weak transcription	Left Ventricle	heart
6	chr5:146798000-146810800	Weak transcription	Fetal Heart	heart
7	chr5:146798200-146810600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:146798200-146811200	Weak transcription	Fetal Lung	lung
9	chr5:146798200-146815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:146798400-146811200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:146798800-146811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:146799000-146818400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:146803200-146810200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:146803600-146811400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:146803800-146810400	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:146804200-146810600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:146804400-146810800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:146804400-146815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:146804600-146810800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:146804800-146809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:146805000-146810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:146805200-146810200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:146805800-146819200	Enhancers	Colon Smooth Muscle	Colon
25	chr5:146806000-146812400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:146806000-146814800	Enhancers	Fetal Brain Male	brain
27	chr5:146806800-146810800	Weak transcription	Fetal Intestine Large	intestine
28	chr5:146806800-146811400	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:146807600-146811000	Weak transcription	Fetal Stomach	stomach
30	chr5:146807600-146812800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:146808000-146810800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:146808000-146811200	Weak transcription	Aorta	Aorta
33	chr5:146808000-146811200	Weak transcription	NH-A	brain
34	chr5:146808000-146816200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:146808200-146810400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:146808200-146810800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:146808200-146810800	Weak transcription	Ovary	ovary
38	chr5:146808200-146811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:146808200-146816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:146808200-146816600	Weak transcription	Osteobl	bone
41	chr5:146808200-146818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:146808800-146809600	Genic enhancers	Brain Germinal Matrix	brain
43	chr5:146808800-146809800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:146808800-146810800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:146809000-146809600	Enhancers	Fetal Brain Female	brain
46	chr5:146809000-146809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:146809000-146810200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:146809000-146810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:146809000-146811200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:146809000-146811200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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