Variant report

Variant	rs34579266
Chromosome Location	chr1:153873043-153873044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153868285..153870789-chr1:153871775..153873311,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11264522	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12023578	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12032520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12033532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12039936	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12043354	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12044455	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12045838	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12726350	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2072704	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2297895	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33998934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34665499	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35170146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4309017	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4323749	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61804837	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61804838	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61804839	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61805526	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6427298	0.80[ASN][1000 genomes]
rs6427334	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67579382	0.82[AFR][1000 genomes]
rs7527406	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9427246	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153825800-153887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:153837000-153893000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:153846200-153894200	Weak transcription	Esophagus	oesophagus
4	chr1:153853800-153892200	Weak transcription	Pancreas	Pancrea
5	chr1:153853800-153893400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:153854000-153892600	Weak transcription	Colonic Mucosa	Colon
7	chr1:153854400-153876200	Weak transcription	Spleen	Spleen
8	chr1:153854400-153892400	Weak transcription	Aorta	Aorta
9	chr1:153854600-153892200	Weak transcription	HSMM	muscle
10	chr1:153855000-153886800	Weak transcription	Gastric	stomach
11	chr1:153855000-153886800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:153855000-153887200	Weak transcription	Ovary	ovary
13	chr1:153855000-153891800	Weak transcription	NHEK	skin
14	chr1:153855000-153892400	Weak transcription	NHLF	lung
15	chr1:153855000-153892800	Weak transcription	NH-A	brain
16	chr1:153855200-153880600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:153855400-153876400	Weak transcription	Osteobl	bone
18	chr1:153855400-153879600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:153855400-153892000	Weak transcription	HMEC	breast
20	chr1:153855600-153873600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:153855600-153892200	Weak transcription	Fetal Kidney	kidney
22	chr1:153856000-153890400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:153856000-153891600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:153859000-153873600	Strong transcription	Fetal Thymus	thymus
25	chr1:153860000-153890400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:153860200-153879400	Weak transcription	A549	lung
27	chr1:153861200-153891600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:153861200-153892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:153861400-153873600	Weak transcription	Brain Substantia Nigra	brain
30	chr1:153861400-153877000	Weak transcription	NHDF-Ad	bronchial
31	chr1:153861400-153890800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:153861600-153873600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:153861600-153877200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:153861600-153879400	Weak transcription	Fetal Lung	lung
35	chr1:153861800-153875800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:153861800-153875800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:153862000-153884400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:153862200-153873800	Weak transcription	Fetal Heart	heart
39	chr1:153862200-153878800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:153862200-153878800	Weak transcription	K562	blood
41	chr1:153862400-153877800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:153862600-153892000	Weak transcription	Small Intestine	intestine
43	chr1:153864800-153873600	Strong transcription	Dnd41	blood
44	chr1:153865200-153874000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:153866200-153876400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:153866200-153880600	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:153866400-153894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:153866600-153876200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:153866600-153891600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:153866800-153887000	Weak transcription	Left Ventricle	heart

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