Variant report

Variant	rs12283198
Chromosome Location	chr11:47484858-47484859
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11039250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039259	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039261	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039298	1.00[AMR][1000 genomes]
rs11039349	1.00[AMR][1000 genomes]
rs12271179	1.00[AMR][1000 genomes]
rs12272214	1.00[AMR][1000 genomes]
rs12273429	0.94[AFR][1000 genomes]
rs12275286	1.00[AMR][1000 genomes]
rs12286933	1.00[AMR][1000 genomes]
rs12288253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377591	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61978569	1.00[AMR][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	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47457400-47488400	Weak transcription	Gastric	stomach
3	chr11:47471000-47486200	Weak transcription	Right Ventricle	heart
4	chr11:47471200-47488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:47471400-47489200	Weak transcription	HepG2	liver
6	chr11:47471600-47486000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:47471800-47485600	Weak transcription	Spleen	Spleen
8	chr11:47472000-47485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:47474000-47485800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:47475800-47486800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:47476000-47486800	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:47476000-47487400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:47476200-47485000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:47476200-47485200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:47476200-47485600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:47476200-47486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:47476200-47486600	Weak transcription	Brain Anterior Caudate	brain
18	chr11:47476200-47488200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:47476400-47485600	Weak transcription	K562	blood
20	chr11:47476600-47487400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:47476600-47488400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:47476600-47488600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:47477000-47487600	Weak transcription	Brain Substantia Nigra	brain
24	chr11:47478000-47485000	Weak transcription	Liver	Liver
25	chr11:47478200-47488400	Weak transcription	Esophagus	oesophagus
26	chr11:47479200-47485000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:47479200-47485800	Weak transcription	Osteobl	bone
28	chr11:47479200-47486800	Weak transcription	Brain Germinal Matrix	brain
29	chr11:47479400-47485200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:47479400-47485600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:47479400-47488200	Weak transcription	Colonic Mucosa	Colon
32	chr11:47479400-47491200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:47479600-47485200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:47479600-47486000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:47479600-47486200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:47479600-47489800	Weak transcription	Fetal Kidney	kidney
37	chr11:47479600-47491400	Weak transcription	Aorta	Aorta
38	chr11:47479800-47485800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:47479800-47485800	Weak transcription	Placenta	Placenta
40	chr11:47479800-47485800	Weak transcription	GM12878-XiMat	blood
41	chr11:47479800-47486400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:47479800-47486800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:47479800-47486800	Weak transcription	HMEC	breast
44	chr11:47479800-47489000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:47479800-47494400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:47480000-47487800	Strong transcription	Fetal Stomach	stomach
47	chr11:47480000-47510000	Strong transcription	Thymus	Thymus
48	chr11:47480200-47488800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:47480400-47485400	Weak transcription	Primary B cells from cord blood	blood
50	chr11:47480600-47485400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links