Variant report

Variant	rs73337391
Chromosome Location	chr20:25559112-25559113
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs28417591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28439563	1.00[EUR][1000 genomes]
rs28733778	1.00[EUR][1000 genomes]
rs417446	1.00[EUR][1000 genomes]
rs56795563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57150489	0.93[AFR][1000 genomes]
rs57237389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57522322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57544952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57579912	1.00[EUR][1000 genomes]
rs59362331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59826126	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60758360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60772859	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60831246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60834749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6515689	0.93[AFR][1000 genomes]
rs7264066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7267807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7270324	1.00[AMR][1000 genomes]
rs7274585	1.00[AMR][1000 genomes]
rs7274976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331822	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331833	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331834	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331880	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331881	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333506	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333566	1.00[EUR][1000 genomes]
rs73333583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335329	1.00[EUR][1000 genomes]
rs73335331	1.00[EUR][1000 genomes]
rs73335348	1.00[EUR][1000 genomes]
rs73335353	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335375	1.00[EUR][1000 genomes]
rs73335382	1.00[EUR][1000 genomes]
rs73335383	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335394	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335398	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335402	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337303	1.00[EUR][1000 genomes]
rs73337316	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337380	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73339340	1.00[EUR][1000 genomes]
rs73339342	1.00[EUR][1000 genomes]
rs73339354	1.00[EUR][1000 genomes]
rs73339363	1.00[EUR][1000 genomes]
rs73339381	1.00[EUR][1000 genomes]
rs73341383	0.86[AFR][1000 genomes]
rs73343243	0.86[AFR][1000 genomes]
rs73345256	0.93[AFR][1000 genomes]
rs8117413	1.00[AMR][1000 genomes]
rs8118017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8123947	1.00[AMR][1000 genomes]
rs8125218	0.93[AFR][1000 genomes]
rs9917460	0.93[AFR][1000 genomes]
rs9941767	1.00[EUR][1000 genomes]
rs9967947	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv912832	chr20:25527984-25595175	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv912833	chr20:25539486-25595175	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25521600-25565000	Weak transcription	Aorta	Aorta
2	chr20:25524400-25565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:25531200-25559600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:25532600-25559800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:25532600-25565000	Weak transcription	HSMMtube	muscle
6	chr20:25534800-25561400	Weak transcription	Right Atrium	heart
7	chr20:25535000-25560000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:25535000-25561400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr20:25535800-25565000	Weak transcription	Fetal Kidney	kidney
10	chr20:25544600-25565000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr20:25544800-25559600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr20:25546000-25559800	Weak transcription	Fetal Muscle Leg	muscle
13	chr20:25546400-25559800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:25546400-25565000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr20:25546600-25559600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr20:25546600-25559800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:25547000-25559600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr20:25547000-25559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr20:25548800-25565200	Weak transcription	Esophagus	oesophagus
20	chr20:25549000-25560000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:25550600-25560000	Weak transcription	HSMM	muscle
22	chr20:25550600-25561200	Weak transcription	Gastric	stomach
23	chr20:25552000-25565000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr20:25552200-25564800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr20:25552800-25559600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr20:25553000-25559800	Weak transcription	Fetal Intestine Large	intestine
27	chr20:25554800-25559600	Weak transcription	Fetal Lung	lung
28	chr20:25555000-25559400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr20:25555000-25559600	Weak transcription	NH-A	brain
30	chr20:25555200-25561200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:25555200-25564800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr20:25555200-25565000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:25555200-25565000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr20:25555400-25559800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr20:25555400-25561200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr20:25555400-25565000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr20:25555400-25565000	Weak transcription	Brain Anterior Caudate	brain
38	chr20:25555400-25565000	Weak transcription	NHLF	lung
39	chr20:25555600-25559600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr20:25555600-25559600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr20:25555600-25559800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr20:25555600-25559800	Weak transcription	Osteobl	bone
43	chr20:25555600-25560200	Weak transcription	Dnd41	blood
44	chr20:25556000-25559600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:25556800-25559800	Strong transcription	Fetal Stomach	stomach
46	chr20:25557000-25565000	Weak transcription	Thymus	Thymus
47	chr20:25557200-25560000	Weak transcription	Fetal Thymus	thymus
48	chr20:25557800-25559600	Weak transcription	A549	lung
49	chr20:25558000-25560000	Weak transcription	Brain Germinal Matrix	brain
50	chr20:25558200-25559400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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