Variant report

Variant	rs12428478
Chromosome Location	chr13:52276787-52276788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1058141	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10676	0.92[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12427805	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12430600	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12430760	0.85[CEU][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes]
rs12431173	0.89[AMR][1000 genomes]
rs17069413	0.85[CEU][hapmap];0.96[GIH][hapmap];0.88[AMR][1000 genomes]
rs17075849	0.82[CEU][hapmap];0.88[AMR][1000 genomes]
rs17531181	0.96[GIH][hapmap];0.87[LWK][hapmap];0.89[AMR][1000 genomes]
rs2011276	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2296027	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2408491	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4941703	0.80[YRI][hapmap]
rs55910561	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57280031	1.00[EUR][1000 genomes]
rs57837262	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291282	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199742	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199750	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7321346	0.88[AMR][1000 genomes]
rs7329391	0.96[GIH][hapmap];0.85[AMR][1000 genomes]
rs74086223	0.88[AMR][1000 genomes]
rs7985214	1.00[EUR][1000 genomes]
rs8001480	0.85[CEU][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes]
rs9568662	0.85[AMR][1000 genomes]
rs9596572	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596573	1.00[EUR][1000 genomes]
rs9805172	0.80[YRI][hapmap]

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	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52234000-52277800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr13:52247200-52277400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr13:52247600-52300200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:52247600-52300200	Weak transcription	Fetal Lung	lung
5	chr13:52249400-52307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:52254600-52293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr13:52254600-52301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:52256400-52277800	Weak transcription	HSMMtube	muscle
9	chr13:52258000-52280400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:52259200-52278000	Weak transcription	Primary T cells from cord blood	blood
11	chr13:52259400-52277800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr13:52263400-52295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:52264000-52277600	Weak transcription	NH-A	brain
14	chr13:52264000-52300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:52264200-52277600	Weak transcription	HepG2	liver
16	chr13:52264200-52277800	Weak transcription	HMEC	breast
17	chr13:52264200-52277800	Weak transcription	HSMM	muscle
18	chr13:52264200-52278000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:52264200-52280800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:52269800-52278800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr13:52270400-52277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:52270400-52279000	Weak transcription	Esophagus	oesophagus
23	chr13:52270400-52293200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr13:52270800-52278000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:52270800-52301600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr13:52271200-52278200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:52271200-52301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:52271800-52281400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:52272000-52277800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:52272200-52277800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:52272200-52288800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:52272400-52277800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:52272400-52279600	Weak transcription	Brain Angular Gyrus	brain
34	chr13:52272400-52287600	Weak transcription	NHDF-Ad	bronchial
35	chr13:52272400-52288800	Weak transcription	NHLF	lung
36	chr13:52272600-52277800	Weak transcription	Osteobl	bone
37	chr13:52273400-52279200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:52273400-52291800	Weak transcription	Brain Anterior Caudate	brain
39	chr13:52273600-52279000	Weak transcription	Gastric	stomach
40	chr13:52273600-52291400	Weak transcription	Brain Hippocampus Middle	brain
41	chr13:52273600-52293000	Weak transcription	Right Atrium	heart
42	chr13:52273600-52293200	Weak transcription	Left Ventricle	heart
43	chr13:52273600-52295200	Weak transcription	Right Ventricle	heart
44	chr13:52273600-52295600	Weak transcription	Pancreas	Pancrea
45	chr13:52273600-52295800	Weak transcription	Spleen	Spleen
46	chr13:52273800-52277000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:52273800-52277600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr13:52274000-52277800	Weak transcription	Primary B cells from cord blood	blood
49	chr13:52274000-52277800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr13:52274000-52278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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