Variant report

Variant	rs73831472
Chromosome Location	chr3:47104425-47104426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47098565..47100526-chr3:47102851..47105767,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs55633581	1.00[AMR][1000 genomes]
rs55646108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55727789	1.00[AMR][1000 genomes]
rs55730344	1.00[AMR][1000 genomes]
rs55832326	1.00[AMR][1000 genomes]
rs56329054	1.00[AMR][1000 genomes]
rs57114752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57341796	1.00[AMR][1000 genomes]
rs58040348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529346	1.00[AMR][1000 genomes]
rs58558054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs59614145	1.00[AMR][1000 genomes]
rs59846120	1.00[AMR][1000 genomes]
rs60017851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60054745	1.00[AMR][1000 genomes]
rs60100816	1.00[AMR][1000 genomes]
rs60444519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831409	1.00[AMR][1000 genomes]
rs73831411	1.00[AMR][1000 genomes]
rs73831412	1.00[AMR][1000 genomes]
rs73831414	1.00[AMR][1000 genomes]
rs73831415	1.00[AMR][1000 genomes]
rs73831421	1.00[AMR][1000 genomes]
rs73831424	1.00[AMR][1000 genomes]
rs73831425	1.00[AMR][1000 genomes]
rs73831428	1.00[AMR][1000 genomes]
rs73831430	1.00[AMR][1000 genomes]
rs73831431	1.00[AMR][1000 genomes]
rs73831432	1.00[AMR][1000 genomes]
rs73831444	1.00[AMR][1000 genomes]
rs73831445	1.00[AMR][1000 genomes]
rs73831446	1.00[AMR][1000 genomes]
rs73831448	1.00[AMR][1000 genomes]
rs73831449	1.00[AMR][1000 genomes]
rs73831450	1.00[AMR][1000 genomes]
rs73831451	1.00[AMR][1000 genomes]
rs73831453	1.00[AMR][1000 genomes]
rs73831454	1.00[AMR][1000 genomes]
rs73831455	1.00[AMR][1000 genomes]
rs73831457	1.00[AMR][1000 genomes]
rs73831458	1.00[AMR][1000 genomes]
rs73831459	1.00[AMR][1000 genomes]
rs73831466	1.00[AMR][1000 genomes]
rs73831467	1.00[AMR][1000 genomes]
rs73831468	1.00[AMR][1000 genomes]
rs73831469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831481	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831488	1.00[AMR][1000 genomes]
rs73831492	1.00[AMR][1000 genomes]
rs73831493	1.00[AMR][1000 genomes]
rs73831496	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47078000-47130600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47079600-47123800	Weak transcription	Pancreas	Pancrea
3	chr3:47079600-47124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47079800-47124200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:47083000-47106400	Weak transcription	Colonic Mucosa	Colon
6	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
7	chr3:47083400-47117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
9	chr3:47084400-47104800	Weak transcription	Fetal Kidney	kidney
10	chr3:47084400-47116000	Weak transcription	Right Ventricle	heart
11	chr3:47088200-47112800	Weak transcription	NHDF-Ad	bronchial
12	chr3:47089000-47117000	Weak transcription	Fetal Heart	heart
13	chr3:47089400-47107000	Weak transcription	Brain Substantia Nigra	brain
14	chr3:47093400-47122600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:47093600-47109800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:47093800-47123400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr3:47094200-47123800	Weak transcription	Esophagus	oesophagus
18	chr3:47094600-47113400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:47095800-47121000	Weak transcription	Fetal Brain Male	brain
20	chr3:47096200-47111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr3:47096800-47105400	Strong transcription	Fetal Intestine Small	intestine
22	chr3:47096800-47108200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:47097600-47108800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:47097800-47105400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr3:47098800-47105600	Weak transcription	NH-A	brain
26	chr3:47098800-47106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:47098800-47106600	Weak transcription	Ovary	ovary
28	chr3:47098800-47115200	Weak transcription	HSMMtube	muscle
29	chr3:47098800-47118200	Weak transcription	NHLF	lung
30	chr3:47098800-47121800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:47098800-47122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:47098800-47122000	Weak transcription	Aorta	Aorta
33	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:47099000-47104800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:47099000-47105800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:47099000-47107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:47099000-47107000	Weak transcription	Lung	lung
38	chr3:47099000-47109200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:47099000-47112800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:47099000-47115000	Weak transcription	Brain Angular Gyrus	brain
41	chr3:47099000-47118200	Weak transcription	Brain Anterior Caudate	brain
42	chr3:47099000-47121600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:47099000-47121800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:47099000-47121800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:47099000-47121800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:47099000-47122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:47099000-47122000	Weak transcription	Gastric	stomach
48	chr3:47099000-47125200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:47099000-47128200	Weak transcription	Spleen	Spleen
50	chr3:47099200-47105600	Weak transcription	Colon Smooth Muscle	Colon

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