Variant report

Variant	rs16907395
Chromosome Location	chr12:11997620-11997621
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16907359	0.81[EUR][1000 genomes]
rs17300449	0.84[EUR][1000 genomes]
rs17819001	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs56116163	0.83[EUR][1000 genomes]
rs56198451	0.81[EUR][1000 genomes]
rs73052064	0.86[EUR][1000 genomes]
rs73052074	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73052077	0.81[EUR][1000 genomes]
rs73052089	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:11980400-12006000	Weak transcription	HSMMtube	muscle
4	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:11983600-12004400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:11983600-12008200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:11983600-12008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:11983800-12008200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:11985400-12004200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:11985800-12014800	Weak transcription	Fetal Brain Female	brain
11	chr12:11987000-11999400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:11987000-12013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:11987200-12000000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:11987400-12004400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
16	chr12:11988200-12006200	Weak transcription	NHDF-Ad	bronchial
17	chr12:11988800-12003600	Strong transcription	Dnd41	blood
18	chr12:11989400-12002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:11989600-12008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:11989800-12008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:11992000-12004600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:11992200-11999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:11992200-12000800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:11992200-12001200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:11992200-12001200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:11992400-12004400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:11992400-12004400	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:11992400-12004400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:11992400-12004600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:11992400-12006400	Weak transcription	HMEC	breast
32	chr12:11992400-12008200	Weak transcription	Brain Angular Gyrus	brain
33	chr12:11992400-12008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:11992600-12012600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:11992600-12014600	Weak transcription	NHEK	skin
36	chr12:11992600-12015600	Weak transcription	NHLF	lung
37	chr12:11992600-12015800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:11993000-12004400	Weak transcription	Brain Anterior Caudate	brain
39	chr12:11993000-12019000	Weak transcription	A549	lung
40	chr12:11993200-12000800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:11993200-12002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:11993200-12002800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:11993200-12008200	Weak transcription	Right Ventricle	heart
44	chr12:11993400-11998400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:11993400-12003800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:11993600-11999800	Weak transcription	Left Ventricle	heart
47	chr12:11993600-12000600	Strong transcription	Fetal Thymus	thymus
48	chr12:11993600-12004400	Strong transcription	GM12878-XiMat	blood
49	chr12:11993600-12004600	Strong transcription	Primary B cells from cord blood	blood
50	chr12:11993600-12014000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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