Variant report

Variant	rs60636636
Chromosome Location	chr5:112552997-112552998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10035647	1.00[ASN][1000 genomes]
rs10037038	1.00[ASN][1000 genomes]
rs10069434	1.00[ASN][1000 genomes]
rs10076511	1.00[ASN][1000 genomes]
rs10213689	1.00[ASN][1000 genomes]
rs10213826	1.00[ASN][1000 genomes]
rs10519339	1.00[ASN][1000 genomes]
rs10519340	1.00[ASN][1000 genomes]
rs10519342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241199	1.00[ASN][1000 genomes]
rs11951541	1.00[ASN][1000 genomes]
rs11958840	1.00[ASN][1000 genomes]
rs13362511	1.00[ASN][1000 genomes]
rs17135464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135493	1.00[ASN][1000 genomes]
rs17135511	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968992	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967427	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104704	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602920	1.00[ASN][1000 genomes]
rs57696719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57948635	1.00[ASN][1000 genomes]
rs58069204	1.00[ASN][1000 genomes]
rs58237028	1.00[ASN][1000 genomes]
rs58879623	1.00[ASN][1000 genomes]
rs59101992	1.00[ASN][1000 genomes]
rs59673184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60185446	1.00[ASN][1000 genomes]
rs60590719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60727695	1.00[ASN][1000 genomes]
rs61643643	1.00[ASN][1000 genomes]
rs61692685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374390	1.00[ASN][1000 genomes]
rs634261	1.00[ASN][1000 genomes]
rs6859436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859619	1.00[ASN][1000 genomes]
rs6874561	1.00[ASN][1000 genomes]
rs6878329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899178	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244736	1.00[ASN][1000 genomes]
rs73244737	1.00[ASN][1000 genomes]
rs73244738	1.00[ASN][1000 genomes]
rs73244740	1.00[ASN][1000 genomes]
rs73244742	1.00[ASN][1000 genomes]
rs73244743	1.00[ASN][1000 genomes]
rs73244754	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244773	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702837	1.00[ASN][1000 genomes]
rs7708947	1.00[ASN][1000 genomes]
rs7710138	1.00[ASN][1000 genomes]
rs7723474	1.00[ASN][1000 genomes]
rs9326885	1.00[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112539200-112554000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112540800-112553400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:112542000-112553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112542000-112553400	Weak transcription	Lung	lung
5	chr5:112546600-112555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112546800-112553800	Enhancers	Ovary	ovary
7	chr5:112547200-112553200	Enhancers	Fetal Heart	heart
8	chr5:112547200-112555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:112547800-112555600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:112547800-112555800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:112548000-112555600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:112548400-112553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
14	chr5:112548600-112553400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:112548600-112554000	Weak transcription	HUVEC	blood vessel
16	chr5:112548800-112553200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:112549000-112554000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:112550000-112553200	Weak transcription	Fetal Stomach	stomach
20	chr5:112550000-112553400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:112550000-112556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:112550200-112553400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112550200-112553400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:112550200-112553400	Weak transcription	Fetal Brain Male	brain
25	chr5:112550200-112553400	Weak transcription	Fetal Lung	lung
26	chr5:112550200-112553400	Weak transcription	Psoas Muscle	Psoas
27	chr5:112550200-112559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:112550600-112553200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:112550600-112553200	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:112550600-112558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:112550800-112553200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:112551000-112553600	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:112551000-112556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:112551200-112554000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:112551400-112553200	Weak transcription	Left Ventricle	heart
36	chr5:112551400-112553200	Weak transcription	Right Atrium	heart
37	chr5:112551400-112553400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:112551400-112553400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:112551400-112553400	Weak transcription	Right Ventricle	heart
40	chr5:112551400-112553600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:112551400-112556600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:112551600-112553200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:112551600-112555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:112551600-112559800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:112551800-112553000	Enhancers	Brain Substantia Nigra	brain
46	chr5:112551800-112553400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:112551800-112557000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:112551800-112557000	Weak transcription	NHDF-Ad	bronchial
49	chr5:112552000-112553400	Weak transcription	Placenta	Placenta
50	chr5:112552000-112556800	Weak transcription	NH-A	brain

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