Variant report

Variant	rs11048382
Chromosome Location	chr12:26180206-26180207
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	chr12:26179146..26181652-chr12:26265259..26267157,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10842643	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10842644	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10842653	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11048360	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048372	0.89[AMR][1000 genomes]
rs11048378	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11048379	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11048380	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11048381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048383	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048384	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048389	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11048390	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1120064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1149804	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11561207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12227689	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12578169	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12812200	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12812752	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12813641	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12818478	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12831248	0.89[AMR][1000 genomes]
rs1390326	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1691889	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16929784	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16929817	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16929830	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16929846	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16929940	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16929945	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16929950	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16929958	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2055180	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2132317	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2279680	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2343201	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2643941	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34294573	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34595529	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35924984	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3803009	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60335536	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61622173	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487525	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs706524	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs706526	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs706531	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs706532	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs706533	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs706538	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7132590	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7134721	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7298162	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7953171	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7963603	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7963856	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829837	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs829987	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs853656	0.80[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	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:26169600-26182000	Weak transcription	NHLF	lung
4	chr12:26170800-26181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:26170800-26182000	Weak transcription	Pancreas	Pancrea
6	chr12:26170800-26185600	Weak transcription	Aorta	Aorta
7	chr12:26171000-26182000	Weak transcription	HUVEC	blood vessel
8	chr12:26171000-26183800	Weak transcription	Hela-S3	cervix
9	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:26172000-26182000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:26172200-26180400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:26172200-26181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:26173400-26186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:26174200-26180600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:26174600-26182000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:26174600-26185600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:26174800-26181800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:26174800-26182000	Weak transcription	Right Atrium	heart
19	chr12:26174800-26185600	Weak transcription	Ovary	ovary
20	chr12:26175000-26180800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:26175000-26181400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:26175000-26181800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:26175000-26190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:26175200-26182000	Weak transcription	Brain Anterior Caudate	brain
26	chr12:26175200-26186800	Weak transcription	Psoas Muscle	Psoas
27	chr12:26175200-26190800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:26175400-26180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:26175400-26180600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:26175400-26180800	Weak transcription	Brain Angular Gyrus	brain
31	chr12:26175400-26180800	Weak transcription	Brain Substantia Nigra	brain
32	chr12:26175400-26181800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:26175400-26185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:26175400-26190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:26176000-26184200	Weak transcription	Left Ventricle	heart
36	chr12:26178200-26181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:26179000-26180400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:26179600-26180600	Weak transcription	Small Intestine	intestine
39	chr12:26179600-26180800	Enhancers	Fetal Intestine Small	intestine
40	chr12:26179800-26186000	Enhancers	Colon Smooth Muscle	Colon
41	chr12:26180000-26180400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:26180000-26181000	Enhancers	Osteobl	bone
43	chr12:26180000-26182000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:26180000-26182400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:26180000-26188200	Enhancers	NHDF-Ad	bronchial
46	chr12:26180200-26180600	Enhancers	Stomach Mucosa	stomach
47	chr12:26180200-26180600	Enhancers	NH-A	brain
48	chr12:26180200-26180800	Enhancers	HSMM	muscle
49	chr12:26180200-26181000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:26180200-26181000	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links