Variant report

Variant	rs7294389
Chromosome Location	chr12:49037903-49037904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49035786..49038249-chr12:49038357..49040344,2	K562	blood:
2	chr12:49033876..49037286-chr12:49037890..49040344,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10875851	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168690	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168694	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168695	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168699	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168700	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168701	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168708	1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11832160	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132370	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61942012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942051	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61942053	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61942058	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942059	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7295027	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966343	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49027600-49046600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:49028200-49045000	Weak transcription	Colonic Mucosa	Colon
3	chr12:49028400-49038000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
5	chr12:49031400-49043800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:49033800-49039000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:49033800-49045200	Weak transcription	Spleen	Spleen
8	chr12:49034400-49042400	Weak transcription	Thymus	Thymus
9	chr12:49034600-49045800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:49034800-49038000	Weak transcription	Primary T cells from cord blood	blood
11	chr12:49034800-49041200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:49034800-49041800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:49034800-49044400	Weak transcription	NHEK	skin
14	chr12:49034800-49045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:49034800-49045400	Weak transcription	NHDF-Ad	bronchial
16	chr12:49035000-49041200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:49035000-49044400	Weak transcription	Brain Anterior Caudate	brain
18	chr12:49035000-49045600	Weak transcription	K562	blood
19	chr12:49035200-49042200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:49035200-49046800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:49035400-49044600	Weak transcription	HMEC	breast
22	chr12:49035400-49046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:49035400-49047000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:49035400-49047000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:49035600-49038400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:49035600-49042600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:49035800-49038600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:49035800-49046800	Weak transcription	Gastric	stomach
29	chr12:49035800-49046800	Weak transcription	Ovary	ovary
30	chr12:49036000-49045600	Weak transcription	Right Ventricle	heart
31	chr12:49036200-49039000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:49036200-49041800	Weak transcription	Fetal Stomach	stomach
33	chr12:49036400-49041800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:49036400-49041800	Weak transcription	Fetal Intestine Large	intestine
35	chr12:49036400-49041800	Weak transcription	Lung	lung
36	chr12:49036400-49045000	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:49036400-49045200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:49036400-49045400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:49036600-49038000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
40	chr12:49036600-49038200	Strong transcription	Adipose Nuclei	Adipose
41	chr12:49036600-49038600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:49036600-49038600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:49036600-49038800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:49036600-49038800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:49036600-49038800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:49036600-49038800	Strong transcription	Osteobl	bone
47	chr12:49036600-49039000	ZNF genes & repeats	Dnd41	blood
48	chr12:49036600-49041800	Weak transcription	Aorta	Aorta
49	chr12:49036600-49044200	Weak transcription	Fetal Thymus	thymus
50	chr12:49036600-49044800	Weak transcription	Brain Hippocampus Middle	brain

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