Variant report

Variant	rs2283239
Chromosome Location	chr11:17951515-17951516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12290125	1.00[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17720417	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17720513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17721184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17721739	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs17794213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17794760	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs211126	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs211127	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs211134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs211138	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237921	1.00[ASW][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237924	1.00[ASW][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2283236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34614478	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394218	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3993323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3993324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs440234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4438010	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4756927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4757604	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4757605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4757615	0.88[CEU][hapmap]
rs61882454	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61882456	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882460	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882461	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61884489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61884492	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884494	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs758437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17838400-17971600	Weak transcription	Gastric	stomach
2	chr11:17886000-17965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:17896000-17968000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:17896400-17968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:17906000-17970200	Weak transcription	Lung	lung
6	chr11:17914600-17965400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:17915800-17966000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:17920600-17976000	Weak transcription	Esophagus	oesophagus
9	chr11:17928600-17970200	Weak transcription	Thymus	Thymus
10	chr11:17929200-17954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:17933000-17956800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
13	chr11:17935200-17955000	Strong transcription	Primary T cells from cord blood	blood
14	chr11:17937600-17977000	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:17937800-17951800	Weak transcription	HSMMtube	muscle
16	chr11:17937800-17965800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:17939400-17953400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:17940000-17953000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:17940000-17976400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:17941000-17953000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:17942800-17954400	Weak transcription	NHEK	skin
22	chr11:17943200-17953400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:17943600-17952400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:17943600-17975400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:17943800-17953200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:17943800-17992800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:17944000-17964600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:17944000-17975600	Weak transcription	HSMM	muscle
29	chr11:17944000-18026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:17944200-17955400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:17945000-17965400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:17945000-17974000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:17945200-17954200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:17945200-17967600	Weak transcription	Adipose Nuclei	Adipose
35	chr11:17945200-17974800	Weak transcription	GM12878-XiMat	blood
36	chr11:17945400-17953200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:17945400-17960400	Weak transcription	Dnd41	blood
38	chr11:17945400-17961800	Weak transcription	Brain Angular Gyrus	brain
39	chr11:17945400-17962200	Weak transcription	Ovary	ovary
40	chr11:17945400-17975400	Weak transcription	Pancreas	Pancrea
41	chr11:17945400-18010000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:17945400-18033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:17945600-17952000	Weak transcription	Primary B cells from cord blood	blood
44	chr11:17945600-17961000	Weak transcription	Right Ventricle	heart
45	chr11:17945600-17969600	Weak transcription	Fetal Brain Female	brain
46	chr11:17945600-17972400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:17946200-17975400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:17947800-17952400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:17947800-17953400	Strong transcription	HepG2	liver
50	chr11:17948000-17970200	Weak transcription	Spleen	Spleen

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