Variant report

Variant	rs28521458
Chromosome Location	chr12:9466055-9466056
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10734772	0.87[ASN][1000 genomes]
rs10743659	0.85[ASN][1000 genomes]
rs10771522	0.86[ASN][1000 genomes]
rs2889720	0.85[ASN][1000 genomes]
rs56050353	0.82[ASN][1000 genomes]
rs57080744	0.90[ASN][1000 genomes]
rs7969222	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
3	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
8	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv976736	chr12:9431362-9524845	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv898740	chr12:9436446-9546962	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv975441	chr12:9439756-9469779	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv898741	chr12:9458525-9546962	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9437200-9467600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:9437200-9472400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:9437200-9485200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:9437400-9467800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:9437400-9468000	Weak transcription	Pancreas	Pancrea
6	chr12:9437400-9470800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:9443200-9467800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:9449400-9468000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:9450200-9471400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:9452400-9466600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:9456200-9472200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:9456400-9471800	Weak transcription	GM12878-XiMat	blood
13	chr12:9456800-9466400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:9457400-9485800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:9457600-9466600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:9458000-9472200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:9458400-9467800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:9458400-9469400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:9460200-9467800	Weak transcription	Adipose Nuclei	Adipose
20	chr12:9460400-9468400	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:9461800-9466400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:9462600-9466400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:9462800-9466200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:9463000-9466400	Strong transcription	Fetal Thymus	thymus
25	chr12:9463000-9479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:9463200-9471600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:9464000-9466400	Strong transcription	Thymus	Thymus
28	chr12:9464400-9477600	Weak transcription	Lung	lung
29	chr12:9464600-9487600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:9464800-9472200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:9464800-9472200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:9464800-9490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:9465000-9466400	Enhancers	Liver	Liver
34	chr12:9465000-9468400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:9465000-9469400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:9465000-9472600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:9465000-9473000	Weak transcription	Esophagus	oesophagus
38	chr12:9465000-9486400	Weak transcription	A549	lung
39	chr12:9465200-9466600	Enhancers	HepG2	liver
40	chr12:9465200-9467600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:9465200-9471400	Weak transcription	Spleen	Spleen
42	chr12:9465400-9466200	Enhancers	HMEC	breast
43	chr12:9465400-9467000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:9465400-9467800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:9465400-9467800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:9465400-9485200	Weak transcription	Fetal Intestine Small	intestine
47	chr12:9465600-9471000	Weak transcription	Fetal Stomach	stomach
48	chr12:9465600-9472200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:9465600-9477800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:9465600-9484000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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