Variant report

Variant	rs1482283
Chromosome Location	chr12:40411118-40411119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10747971	0.89[ASW][hapmap];0.82[YRI][hapmap]
rs483163	0.80[EUR][1000 genomes]
rs515291	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs520138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs549727	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551739	0.82[EUR][1000 genomes]
rs556141	0.80[EUR][1000 genomes]
rs561057	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs568483	0.95[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs569631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs814228	0.82[CHD][hapmap];0.95[JPT][hapmap]

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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv899027	chr12:40388510-40428561	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1482283	TAB3	trans	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40402200-40425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40405400-40445200	Weak transcription	K562	blood
4	chr12:40405600-40417000	Weak transcription	Lung	lung
5	chr12:40405800-40411200	Weak transcription	NHLF	lung
6	chr12:40405800-40412800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:40405800-40414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:40405800-40421000	Weak transcription	Left Ventricle	heart
9	chr12:40405800-40425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:40405800-40426000	Weak transcription	Pancreas	Pancrea
11	chr12:40406000-40423200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:40406600-40423200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:40406600-40425800	Weak transcription	Liver	Liver
14	chr12:40407600-40411200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:40407800-40426000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:40409200-40411200	Enhancers	Stomach Mucosa	stomach
17	chr12:40409200-40411600	Enhancers	NHDF-Ad	bronchial
18	chr12:40409400-40411800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr12:40409400-40412400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:40409600-40411200	Weak transcription	Fetal Intestine Small	intestine
21	chr12:40409600-40411400	Enhancers	A549	lung
22	chr12:40409600-40412600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:40409600-40412800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:40409600-40412800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:40409600-40413000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:40409600-40414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:40409600-40426000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:40409800-40413000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:40410000-40411600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:40410000-40417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:40410000-40422200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:40410200-40411400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:40410400-40411200	Weak transcription	Fetal Intestine Large	intestine
34	chr12:40410400-40411400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:40410400-40413000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:40410600-40411400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:40410600-40411400	Enhancers	Colon Smooth Muscle	Colon
38	chr12:40410800-40411400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:40410800-40411400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:40410800-40411600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:40410800-40411600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr12:40410800-40411600	Enhancers	Fetal Lung	lung
43	chr12:40410800-40411600	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:40410800-40411600	Enhancers	Right Atrium	heart
45	chr12:40410800-40411800	Enhancers	Right Ventricle	heart
46	chr12:40411000-40411600	Enhancers	Osteobl	bone
47	chr12:40411000-40417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:40411000-40418800	Weak transcription	Aorta	Aorta

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