Variant report

Variant	rs58111285
Chromosome Location	chr1:169783659-169783660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10489175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11577641	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11578817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11579102	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11579709	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11581959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582552	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11585093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11589659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11589671	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572551	0.81[AFR][1000 genomes]
rs16828209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862683	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16862705	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2420510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2420511	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34657513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35196850	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3753312	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3766138	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766145	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3766146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766150	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817859	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4656198	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4656201	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4656720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4656726	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55806711	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57805301	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60191157	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60315765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61806076	0.81[AFR][1000 genomes]
rs61807812	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61807813	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61807814	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61807817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61807818	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61807835	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61807840	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6685211	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73026253	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169764800-169793200	Weak transcription	Aorta	Aorta
2	chr1:169764800-169793200	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:169764800-169793400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:169764800-169795200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:169764800-169796200	Weak transcription	Spleen	Spleen
6	chr1:169764800-169818200	Weak transcription	Esophagus	oesophagus
7	chr1:169764800-169818200	Weak transcription	Lung	lung
8	chr1:169764800-169823600	Weak transcription	Gastric	stomach
9	chr1:169765000-169786000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:169765000-169793200	Weak transcription	Fetal Brain Male	brain
11	chr1:169765000-169808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:169765000-169821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:169765200-169793200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:169765200-169793200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:169765200-169793400	Weak transcription	Fetal Kidney	kidney
16	chr1:169765200-169797400	Weak transcription	HSMMtube	muscle
17	chr1:169765200-169802000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:169765200-169807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:169765200-169808000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:169765200-169809000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:169765200-169814800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:169765200-169815200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:169765200-169818800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:169765200-169820600	Weak transcription	Psoas Muscle	Psoas
25	chr1:169765200-169823400	Weak transcription	Right Ventricle	heart
26	chr1:169765400-169788200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:169765400-169796800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:169765400-169798400	Weak transcription	Brain Germinal Matrix	brain
29	chr1:169765400-169798400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:169765400-169808000	Weak transcription	Fetal Heart	heart
31	chr1:169765400-169822600	Weak transcription	Colonic Mucosa	Colon
32	chr1:169765600-169783800	Weak transcription	Fetal Intestine Small	intestine
33	chr1:169765600-169808000	Weak transcription	Small Intestine	intestine
34	chr1:169765600-169818200	Weak transcription	NHLF	lung
35	chr1:169765800-169793200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:169765800-169808000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:169765800-169815200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:169765800-169818400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:169766000-169796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:169766000-169797000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:169766000-169797400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:169769400-169785800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:169770400-169785000	Strong transcription	Dnd41	blood
44	chr1:169771200-169785800	Strong transcription	Fetal Thymus	thymus
45	chr1:169771800-169784600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:169772400-169784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:169773400-169796200	Weak transcription	HMEC	breast
48	chr1:169773400-169798400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:169773400-169808000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:169773800-169796200	Weak transcription	NH-A	brain

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