Variant report

Variant	rs73077152
Chromosome Location	chr12:26149188-26149189
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10505989	0.81[AMR][1000 genomes]
rs12425863	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12426668	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1495649	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929780	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16929815	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929857	0.84[AMR][1000 genomes]
rs16929860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929894	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929895	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929904	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929970	0.81[AMR][1000 genomes]
rs16929998	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2343200	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803008	0.84[AMR][1000 genomes]
rs4963643	0.91[AMR][1000 genomes]
rs4963644	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4963947	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57082706	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57791860	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61123975	0.81[AMR][1000 genomes]
rs73074872	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73074898	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73077103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73077131	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077161	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73077176	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73077179	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73079010	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73079023	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73079024	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73079069	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73080925	0.81[AMR][1000 genomes]
rs9804876	0.83[AMR][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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
4	chr12:26142200-26155600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:26143800-26151200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:26143800-26151200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:26144000-26151200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:26144000-26151600	Enhancers	Colon Smooth Muscle	Colon
9	chr12:26144400-26152200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:26145000-26151400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:26145200-26149600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:26145200-26151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:26145200-26151400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:26145200-26152600	Enhancers	Osteobl	bone
15	chr12:26145400-26150400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:26145400-26150400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:26145400-26150600	Weak transcription	Fetal Heart	heart
18	chr12:26145400-26151000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:26145600-26151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:26145800-26150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:26145800-26150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:26145800-26152400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:26145800-26153400	Weak transcription	Right Atrium	heart
25	chr12:26146000-26150200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:26146000-26150200	Weak transcription	NHEK	skin
27	chr12:26146200-26151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:26146200-26152200	Enhancers	HSMM	muscle
29	chr12:26146200-26163000	Weak transcription	Lung	lung
30	chr12:26146400-26149200	Enhancers	Stomach Smooth Muscle	stomach
31	chr12:26146600-26150200	Weak transcription	HMEC	breast
32	chr12:26146600-26150600	Weak transcription	Right Ventricle	heart
33	chr12:26146600-26155600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:26146800-26150800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:26146800-26150800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:26146800-26151000	Enhancers	HSMMtube	muscle
37	chr12:26147000-26150600	Enhancers	NHLF	lung
38	chr12:26147200-26150400	Enhancers	HUVEC	blood vessel
39	chr12:26147200-26151400	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:26147400-26149200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:26147400-26149200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:26147400-26150600	Weak transcription	Brain Anterior Caudate	brain
43	chr12:26147800-26150200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:26147800-26150600	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:26148000-26149200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:26148000-26150400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:26148000-26151600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:26148000-26152200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:26148000-26152200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:26148000-26163600	Weak transcription	Aorta	Aorta

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