Variant report

Variant	rs12287077
Chromosome Location	chr11:77086046-77086047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77084887..77088500-chr11:77089693..77092767,3	MCF-7	breast:
2	chr11:77081708..77083862-chr11:77084179..77086805,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10466737	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237170	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237191	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270710	0.92[AFR][1000 genomes]
rs12277109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284863	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286371	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295581	0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12366226	0.81[MKK][hapmap]
rs13328841	0.81[AFR][1000 genomes]
rs4483609	0.82[ASW][hapmap];0.85[MKK][hapmap]
rs59645430	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60010669	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109685	0.82[AFR][1000 genomes]
rs7119661	0.90[AFR][1000 genomes]
rs73494591	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73501412	1.00[AMR][1000 genomes]
rs73501418	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats 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 target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:77034400-77086200	Weak transcription	NHLF	lung
4	chr11:77043800-77088400	Weak transcription	Colonic Mucosa	Colon
5	chr11:77046200-77092400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:77047200-77096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:77047400-77089000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:77047400-77090000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:77048600-77087800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:77055200-77092200	Weak transcription	Small Intestine	intestine
12	chr11:77055200-77117600	Weak transcription	Pancreas	Pancrea
13	chr11:77057400-77088000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:77059800-77088800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:77064200-77102800	Weak transcription	Brain Substantia Nigra	brain
16	chr11:77066800-77090000	Weak transcription	Brain Angular Gyrus	brain
17	chr11:77067000-77088000	Weak transcription	Gastric	stomach
18	chr11:77067000-77088200	Weak transcription	Liver	Liver
19	chr11:77067000-77092800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:77067000-77093800	Weak transcription	Psoas Muscle	Psoas
21	chr11:77067000-77097000	Weak transcription	Esophagus	oesophagus
22	chr11:77067200-77111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:77068800-77097000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:77069000-77090000	Weak transcription	Fetal Lung	lung
25	chr11:77070000-77102000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:77071200-77087400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:77075200-77097200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:77076800-77087400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:77077000-77090000	Weak transcription	Fetal Thymus	thymus
30	chr11:77077200-77091800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:77077600-77092800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:77078000-77091600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:77081000-77093400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:77081000-77094600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:77081200-77091000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:77081200-77091600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:77081200-77091800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:77081200-77095600	Strong transcription	GM12878-XiMat	blood
39	chr11:77081200-77096600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:77081600-77088000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:77082000-77095600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:77082000-77096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:77082200-77088800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:77082200-77091200	Strong transcription	Placenta	Placenta
45	chr11:77082200-77091400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:77082200-77091400	Strong transcription	Primary T cells from cord blood	blood
47	chr11:77082200-77092800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:77082200-77095800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:77082400-77086800	Strong transcription	Primary B cells from cord blood	blood
50	chr11:77082400-77090600	Weak transcription	Right Ventricle	heart

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