Variant report

Variant	rs73244755
Chromosome Location	chr5:112560730-112560731
allele	A/G
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	0.93[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]
rs60636636	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];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	1.00[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112554200-112561600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112554200-112564200	Weak transcription	Small Intestine	intestine
4	chr5:112555000-112566800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:112556600-112561800	Enhancers	Ovary	ovary
6	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:112557400-112561800	Weak transcription	NHDF-Ad	bronchial
8	chr5:112557400-112564800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:112557600-112566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:112557600-112566400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:112557800-112561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:112557800-112562000	Weak transcription	NHEK	skin
13	chr5:112557800-112565200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:112557800-112566200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:112557800-112566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:112557800-112566400	Weak transcription	HMEC	breast
17	chr5:112557800-112566600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:112558400-112561600	Enhancers	Right Ventricle	heart
19	chr5:112558600-112561600	Enhancers	Fetal Heart	heart
20	chr5:112558800-112568000	Weak transcription	Psoas Muscle	Psoas
21	chr5:112559000-112564800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:112559000-112568000	Weak transcription	Aorta	Aorta
23	chr5:112559000-112570000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:112559000-112571200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:112559200-112560800	Enhancers	Osteobl	bone
26	chr5:112559200-112561600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:112559200-112562400	Enhancers	HUVEC	blood vessel
28	chr5:112559400-112561000	Enhancers	Fetal Lung	lung
29	chr5:112559600-112561200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:112559600-112566400	Weak transcription	Adipose Nuclei	Adipose
31	chr5:112559800-112561400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:112559800-112565000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:112560000-112560800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:112560000-112560800	Enhancers	NH-A	brain
35	chr5:112560000-112561400	Weak transcription	Left Ventricle	heart
36	chr5:112560000-112565400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:112560200-112560800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr5:112560200-112560800	Enhancers	Fetal Stomach	stomach
39	chr5:112560200-112561000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:112560200-112561400	Enhancers	Liver	Liver
41	chr5:112560200-112568000	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:112560400-112560800	Weak transcription	Right Atrium	heart
43	chr5:112560400-112561200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:112560400-112565400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:112560600-112560800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:112560600-112560800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:112560600-112561000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:112560600-112561200	Weak transcription	Brain Substantia Nigra	brain
49	chr5:112560600-112561600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:112560600-112562200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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