Variant report

Variant	rs72684412
Chromosome Location	chr1:45489474-45489475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1152028	0.82[AMR][1000 genomes]
rs11548990	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226732	0.82[AMR][1000 genomes]
rs1226750	0.82[AMR][1000 genomes]
rs1612575	0.82[AMR][1000 genomes]
rs173208	0.91[AMR][1000 genomes]
rs1969084	1.00[AMR][1000 genomes]
rs1995403	1.00[AMR][1000 genomes]
rs2228084	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234480	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346685	0.91[AMR][1000 genomes]
rs346686	0.91[AMR][1000 genomes]
rs346688	0.82[AMR][1000 genomes]
rs346689	0.82[AMR][1000 genomes]
rs346692	0.82[AMR][1000 genomes]
rs346703	0.91[AMR][1000 genomes]
rs346704	1.00[AMR][1000 genomes]
rs346709	0.82[AMR][1000 genomes]
rs346710	0.82[AMR][1000 genomes]
rs346711	0.82[AMR][1000 genomes]
rs346718	0.82[AMR][1000 genomes]
rs346720	0.82[AMR][1000 genomes]
rs346725	0.82[AMR][1000 genomes]
rs346726	0.82[AMR][1000 genomes]
rs346730	0.91[AMR][1000 genomes]
rs409082	0.91[AMR][1000 genomes]
rs412055	0.91[AMR][1000 genomes]
rs41312020	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415614	0.91[AMR][1000 genomes]
rs4660835	1.00[AMR][1000 genomes]
rs59432881	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429556	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6664113	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6693885	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72676543	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72684406	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684416	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72684425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72684426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72684447	1.00[AMR][1000 genomes]
rs72684454	0.91[AMR][1000 genomes]
rs7528534	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7543211	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv524385	chr1:45488591-45491504	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
2	chr1:45479000-45493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:45480800-45500600	Weak transcription	HepG2	liver
5	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
6	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
8	chr1:45481200-45510200	Weak transcription	Lung	lung
9	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
11	chr1:45481400-45500000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:45481600-45491800	Weak transcription	NHDF-Ad	bronchial
13	chr1:45481600-45498600	Weak transcription	Hela-S3	cervix
14	chr1:45481600-45499800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:45481600-45499800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:45481800-45489600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:45481800-45491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:45481800-45499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:45482000-45490600	Weak transcription	Fetal Lung	lung
20	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:45484200-45499800	Weak transcription	Fetal Stomach	stomach
22	chr1:45484400-45499200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:45484600-45494800	Weak transcription	Right Atrium	heart
24	chr1:45484600-45499800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:45484800-45497800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:45484800-45499200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:45484800-45499400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:45484800-45499800	Weak transcription	Brain Angular Gyrus	brain
29	chr1:45484800-45499800	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:45485000-45499800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:45485800-45501400	Weak transcription	Ovary	ovary
32	chr1:45486400-45496600	Weak transcription	Fetal Intestine Small	intestine
33	chr1:45486600-45499200	Weak transcription	Brain Anterior Caudate	brain
34	chr1:45487400-45498600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:45487400-45499200	Weak transcription	Brain Germinal Matrix	brain
36	chr1:45489400-45489800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:45489400-45489800	ZNF genes & repeats	Fetal Brain Female	brain

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