Variant report

Variant	rs73244797
Chromosome Location	chr5:112587868-112587869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112576350..112579047-chr5:112586925..112588545,2	K562	blood:
2	chr5:112579792..112582768-chr5:112586295..112589549,3	K562	blood:

Extended variants
information (count: 64 )
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[AMR][1000 genomes];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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135493	1.00[ASN][1000 genomes]
rs17135511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410005	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602920	1.00[ASN][1000 genomes]
rs57696719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807191	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	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[AMR][1000 genomes];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[AMR][1000 genomes];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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244755	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244756	0.86[AFR][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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702837	1.00[ASN][1000 genomes]
rs7708947	1.00[ASN][1000 genomes]
rs7710138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7723474	1.00[ASN][1000 genomes]
rs9326885	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	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
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112572400-112590400	Weak transcription	Liver	Liver
2	chr5:112580600-112597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:112581400-112590800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:112582800-112601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112583000-112604600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:112583600-112599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112583800-112588000	Enhancers	Fetal Heart	heart
8	chr5:112585000-112589000	Enhancers	Right Ventricle	heart
9	chr5:112585000-112589400	Enhancers	Ovary	ovary
10	chr5:112585200-112588000	Enhancers	HUVEC	blood vessel
11	chr5:112585200-112588200	Enhancers	Fetal Muscle Leg	muscle
12	chr5:112585200-112588400	Enhancers	Right Atrium	heart
13	chr5:112585200-112589400	Enhancers	Left Ventricle	heart
14	chr5:112585400-112588000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:112585600-112588200	Enhancers	Adipose Nuclei	Adipose
16	chr5:112585800-112588000	Enhancers	Fetal Lung	lung
17	chr5:112585800-112588200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112586000-112589000	Weak transcription	Esophagus	oesophagus
19	chr5:112586000-112590800	Weak transcription	Small Intestine	intestine
20	chr5:112586000-112593000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:112586400-112588000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:112586400-112588000	Enhancers	HMEC	breast
23	chr5:112586400-112588000	Enhancers	NHEK	skin
24	chr5:112586400-112590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:112586600-112588000	Weak transcription	Placenta	Placenta
26	chr5:112586600-112591200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:112586600-112598800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
29	chr5:112586800-112588000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:112586800-112590800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:112586800-112592000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:112586800-112598800	Weak transcription	Fetal Kidney	kidney
33	chr5:112586800-112599400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:112587000-112588000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:112587000-112589200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:112587000-112590200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:112587000-112594600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:112587200-112588000	Enhancers	Psoas Muscle	Psoas
39	chr5:112587200-112591400	Weak transcription	NHDF-Ad	bronchial
40	chr5:112587200-112599400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:112587400-112588000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:112587400-112588000	Enhancers	Fetal Stomach	stomach
43	chr5:112587400-112588200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:112587600-112588000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:112587600-112588200	Enhancers	Brain Hippocampus Middle	brain
46	chr5:112587600-112588400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:112587600-112588800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:112587600-112591400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:112587800-112589400	Enhancers	Lung	lung

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