Variant report

Variant	rs12551019
Chromosome Location	chr9:96949079-96949080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96945873..96948322-chr9:96948466..96951194,2	MCF-7	breast:
2	chr9:96943921..96946821-chr9:96947982..96950934,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10512230	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10739971	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10761320	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10761323	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10761324	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10821305	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10821306	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10821310	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10821311	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10821316	0.88[EUR][1000 genomes]
rs10821317	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10993072	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10993073	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10993074	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10993075	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10993095	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10993096	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10993097	0.88[EUR][1000 genomes]
rs10993100	0.88[EUR][1000 genomes]
rs11790972	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12004367	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs13293512	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2039012	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34181781	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36030019	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7025395	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7030004	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs7865876	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9409498	0.96[CEU][hapmap]
rs9409706	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs9409709	0.96[CEU][hapmap]
rs9409710	0.96[CEU][hapmap];0.84[EUR][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	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96931400-96965600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:96937200-96959400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:96939600-96949400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:96939600-96950600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr9:96939800-96960800	Weak transcription	NHDF-Ad	bronchial
6	chr9:96940000-96949200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:96940400-96955600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:96940800-96950400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr9:96941400-96959400	Weak transcription	Spleen	Spleen
10	chr9:96942200-96950000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:96942200-96950600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:96942400-96949400	Weak transcription	A549	lung
13	chr9:96942400-96949800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:96942400-96953200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr9:96942400-96957600	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:96942400-96964000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:96943000-96952200	Weak transcription	HMEC	breast
18	chr9:96943400-96949400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:96944200-96949200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:96944400-96959400	Weak transcription	Psoas Muscle	Psoas
21	chr9:96945000-96951000	Weak transcription	Brain Angular Gyrus	brain
22	chr9:96945000-96955000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:96945200-96951600	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:96945200-96955200	Weak transcription	Fetal Heart	heart
25	chr9:96945800-96949600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:96945800-96950000	Weak transcription	Fetal Intestine Small	intestine
27	chr9:96946000-96949800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:96946000-96951400	Weak transcription	Brain Substantia Nigra	brain
29	chr9:96946200-96949200	Weak transcription	Pancreas	Pancrea
30	chr9:96946200-96949400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:96946200-96949800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:96946200-96950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:96946200-96950600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:96946200-96950600	Weak transcription	Right Ventricle	heart
35	chr9:96946200-96951000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:96946200-96953200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:96946200-96957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:96946200-96959400	Weak transcription	Aorta	Aorta
39	chr9:96946200-96962800	Weak transcription	Gastric	stomach
40	chr9:96946200-96965000	Weak transcription	NHLF	lung
41	chr9:96946400-96950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:96946600-96949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:96946600-96954000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:96946800-96949200	Weak transcription	GM12878-XiMat	blood
45	chr9:96946800-96949400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr9:96946800-96949800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:96946800-96949800	Weak transcription	Liver	Liver
48	chr9:96946800-96950600	Weak transcription	Adipose Nuclei	Adipose
49	chr9:96946800-96955200	Weak transcription	HSMMtube	muscle
50	chr9:96946800-96955400	Weak transcription	NH-A	brain

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