Variant report

Variant	rs7133752
Chromosome Location	chr12:42522933-42522934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42516680..42519468-chr12:42521438..42523192,2	K562	blood:
2	chr12:42522464..42525193-chr12:42533031..42535242,2	K562	blood:
3	chr12:42522331..42524527-chr12:42630934..42633141,2	K562	blood:

Variant related genes	Relation type
ENSG00000015153	Chromatin interaction
ENSG00000134283	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10785326	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785327	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10785330	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880238	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880239	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880242	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10880253	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880254	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181330	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11181333	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3990966	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582381	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582382	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582383	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582384	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67706143	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7135456	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135595	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7135851	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7136450	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137522	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296707	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297464	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297971	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7298106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7959852	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964383	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9738145	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9739472	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42476000-42524400	Weak transcription	Gastric	stomach
3	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
4	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
5	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
6	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
9	chr12:42505800-42537000	Weak transcription	Lung	lung
10	chr12:42508400-42524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:42512000-42537400	Weak transcription	Ovary	ovary
12	chr12:42512400-42523800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:42512400-42523800	Weak transcription	HSMM	muscle
14	chr12:42512400-42537000	Weak transcription	Placenta	Placenta
15	chr12:42512600-42524400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:42512600-42524600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:42512800-42524400	Weak transcription	Left Ventricle	heart
18	chr12:42513000-42537000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:42513200-42523800	Weak transcription	NH-A	brain
20	chr12:42513200-42537200	Weak transcription	Primary T cells from cord blood	blood
21	chr12:42513600-42523800	Weak transcription	NHDF-Ad	bronchial
22	chr12:42513600-42523800	Weak transcription	NHLF	lung
23	chr12:42515400-42523600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:42519000-42524800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:42519000-42537000	Weak transcription	Right Atrium	heart
26	chr12:42519200-42523600	Weak transcription	HUVEC	blood vessel
27	chr12:42519200-42523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:42519200-42523800	Weak transcription	NHEK	skin
29	chr12:42519200-42524000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:42519200-42524200	Weak transcription	Fetal Kidney	kidney
31	chr12:42519200-42524400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:42519200-42524600	Enhancers	A549	lung
33	chr12:42519200-42524600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:42519200-42529000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:42519200-42537400	Weak transcription	Small Intestine	intestine
36	chr12:42519400-42523600	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:42519400-42523800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:42519400-42524000	Weak transcription	Fetal Heart	heart
39	chr12:42519400-42524600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:42519400-42524600	Weak transcription	Adipose Nuclei	Adipose
41	chr12:42519600-42523800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:42519600-42524000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:42519600-42524400	Weak transcription	Psoas Muscle	Psoas
44	chr12:42519600-42524600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:42519600-42526600	Weak transcription	HepG2	liver
46	chr12:42519600-42528400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:42519600-42537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:42519800-42523600	Weak transcription	Liver	Liver
49	chr12:42519800-42524200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:42519800-42524600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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