Variant report

Variant	rs12133641
Chromosome Location	chr1:154428283-154428284
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	chr1:154427927..154430760-chr1:154437313..154439105,2	K562	blood:
2	chr1:154424322..154425827-chr1:154428011..154430297,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11265613	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12126142	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12730036	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12730935	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12753254	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2228145	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4129267	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4393147	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4453032	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4537545	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4576655	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4845372	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845373	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845620	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4845621	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4845622	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845623	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56383622	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61812598	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6664201	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7512646	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7518199	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7521458	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7529229	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154414800-154436000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:154416200-154435800	Strong transcription	Liver	Liver
3	chr1:154418000-154440000	Weak transcription	Small Intestine	intestine
4	chr1:154418600-154432800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr1:154419200-154432200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:154419200-154435800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:154421800-154431800	Strong transcription	Rectal Smooth Muscle	rectum
8	chr1:154422600-154434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:154422600-154437600	Weak transcription	Pancreas	Pancrea
10	chr1:154424800-154436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:154425000-154429000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:154425000-154437200	Weak transcription	Fetal Stomach	stomach
13	chr1:154426000-154434200	Weak transcription	Placenta	Placenta
14	chr1:154426000-154436200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:154426200-154428600	Strong transcription	Gastric	stomach
16	chr1:154426200-154431000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:154426200-154433600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:154426200-154434400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:154426200-154436000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:154426400-154429000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:154426400-154432000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:154426400-154432800	Strong transcription	Lung	lung
23	chr1:154426400-154434800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:154426400-154435600	Weak transcription	Stomach Mucosa	stomach
25	chr1:154426400-154436000	Weak transcription	Esophagus	oesophagus
26	chr1:154426400-154436000	Weak transcription	Fetal Lung	lung
27	chr1:154426400-154438000	Weak transcription	Psoas Muscle	Psoas
28	chr1:154426600-154429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:154426600-154429000	Weak transcription	Aorta	Aorta
30	chr1:154426600-154430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:154426600-154431600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:154426600-154431600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:154426600-154431600	Weak transcription	Brain Anterior Caudate	brain
34	chr1:154426600-154432400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:154426600-154434800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:154426600-154435400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:154426600-154435800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:154426600-154435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:154426600-154435800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:154426600-154440600	Weak transcription	Brain Angular Gyrus	brain
41	chr1:154426800-154428400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:154426800-154429000	Weak transcription	Right Atrium	heart
43	chr1:154426800-154430600	Strong transcription	Primary T cells from cord blood	blood
44	chr1:154426800-154430800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:154426800-154431400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:154426800-154431800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:154426800-154431800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:154426800-154434400	Weak transcription	Hela-S3	cervix
49	chr1:154426800-154435200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:154426800-154435800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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