Variant report

Variant	rs73520071
Chromosome Location	chr9:108513140-108513141
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10512342	1.00[EUR][1000 genomes]
rs12345407	1.00[EUR][1000 genomes]
rs16924820	1.00[EUR][1000 genomes]
rs16924997	0.83[EUR][1000 genomes]
rs34006675	1.00[EUR][1000 genomes]
rs35232724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57288965	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57544538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57694909	1.00[EUR][1000 genomes]
rs58554531	1.00[EUR][1000 genomes]
rs58943241	1.00[EUR][1000 genomes]
rs59271367	1.00[AMR][1000 genomes]
rs59314159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59372367	1.00[AMR][1000 genomes]
rs59747314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6477452	1.00[EUR][1000 genomes]
rs7022006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7030040	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7047325	1.00[EUR][1000 genomes]
rs73504072	1.00[AMR][1000 genomes]
rs73504080	1.00[AMR][1000 genomes]
rs73504101	1.00[AMR][1000 genomes]
rs73504102	1.00[AMR][1000 genomes]
rs73506304	1.00[AMR][1000 genomes]
rs73506307	1.00[AMR][1000 genomes]
rs73516084	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73518117	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73518124	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73518141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73518160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73518170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73518183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73520092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73520094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522055	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522056	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522061	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522067	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7866807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7873482	1.00[EUR][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	nsv893693	chr9:108427062-108683134	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv615116	chr9:108468129-108546438	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv893694	chr9:108486533-108854018	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108498000-108513200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:108498200-108513400	Weak transcription	HSMMtube	muscle
3	chr9:108498400-108520000	Weak transcription	Fetal Heart	heart
4	chr9:108498400-108520400	Weak transcription	Psoas Muscle	Psoas
5	chr9:108498800-108514600	Weak transcription	Small Intestine	intestine
6	chr9:108499000-108513400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:108499200-108515000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:108499400-108513400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr9:108499400-108514800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:108499400-108516000	Weak transcription	Brain Anterior Caudate	brain
11	chr9:108499400-108516000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:108499800-108513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:108499800-108513400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:108499800-108513400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:108499800-108514800	Weak transcription	Fetal Kidney	kidney
16	chr9:108500000-108513200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:108500000-108513400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:108500000-108513400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:108500200-108513400	Weak transcription	Thymus	Thymus
20	chr9:108500400-108513400	Weak transcription	Right Ventricle	heart
21	chr9:108500600-108513200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:108500600-108513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:108500600-108513400	Weak transcription	Esophagus	oesophagus
24	chr9:108500600-108513400	Weak transcription	Fetal Stomach	stomach
25	chr9:108500600-108513400	Weak transcription	Gastric	stomach
26	chr9:108502200-108514800	Weak transcription	Fetal Brain Male	brain
27	chr9:108506200-108515000	Weak transcription	Adipose Nuclei	Adipose
28	chr9:108507400-108513400	Weak transcription	Aorta	Aorta
29	chr9:108508800-108513400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:108509200-108513400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:108509200-108515800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:108509600-108514400	Weak transcription	Colonic Mucosa	Colon
33	chr9:108510000-108514600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr9:108510000-108515800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:108510000-108517000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr9:108510200-108513400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr9:108510200-108515000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr9:108510200-108517000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:108510400-108513800	Strong transcription	Liver	Liver
40	chr9:108510400-108514400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:108510400-108515400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr9:108510400-108515800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr9:108510400-108516400	Weak transcription	HMEC	breast
44	chr9:108510600-108514200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr9:108510600-108515200	Strong transcription	Ovary	ovary
46	chr9:108510800-108513400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:108510800-108513400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr9:108510800-108515200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr9:108511000-108515400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr9:108511200-108513600	Weak transcription	Rectal Mucosa Donor 31	rectum

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