Variant report

Variant	rs17091132
Chromosome Location	chr12:42771560-42771561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17091078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17091110	1.00[ASN][1000 genomes]
rs17091127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34837068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58990065	0.81[AFR][1000 genomes];0.80[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	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
3	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
4	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:42721800-42797000	Weak transcription	NHLF	lung
6	chr12:42721800-42803600	Weak transcription	Gastric	stomach
7	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
9	chr12:42732200-42781200	Weak transcription	Fetal Brain Female	brain
10	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:42738000-42787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:42746000-42778400	Weak transcription	Fetal Brain Male	brain
15	chr12:42753600-42776200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:42759000-42780000	Weak transcription	Stomach Mucosa	stomach
17	chr12:42759400-42783200	Weak transcription	A549	lung
18	chr12:42759600-42778400	Weak transcription	K562	blood
19	chr12:42761000-42779000	Weak transcription	Fetal Heart	heart
20	chr12:42761200-42782200	Weak transcription	Lung	lung
21	chr12:42761800-42778400	Weak transcription	Brain Germinal Matrix	brain
22	chr12:42762800-42778600	Weak transcription	Right Ventricle	heart
23	chr12:42763400-42778400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:42763800-42778400	Weak transcription	NHEK	skin
25	chr12:42763800-42804200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:42764200-42778600	Weak transcription	Pancreas	Pancrea
27	chr12:42764400-42771800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:42764600-42775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:42764800-42772600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:42766200-42796800	Weak transcription	Aorta	Aorta
31	chr12:42766600-42781600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
33	chr12:42768400-42772400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:42768400-42774600	Weak transcription	Primary B cells from cord blood	blood
35	chr12:42768600-42771600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:42768600-42771600	Strong transcription	Liver	Liver
37	chr12:42768600-42771800	Strong transcription	Fetal Thymus	thymus
38	chr12:42768600-42771800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:42768600-42774200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:42768800-42771600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:42768800-42771800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:42768800-42771800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:42768800-42772000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:42769000-42771600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:42769000-42771800	Strong transcription	Osteobl	bone
46	chr12:42769400-42773400	Strong transcription	Hela-S3	cervix
47	chr12:42769600-42771800	Strong transcription	Brain Anterior Caudate	brain
48	chr12:42769800-42771600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr12:42769800-42794200	Weak transcription	Left Ventricle	heart
50	chr12:42770000-42779800	Weak transcription	Ovary	ovary

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