Variant report

Variant	rs12151472
Chromosome Location	chr2:189189557-189189558
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189155671..189159103-chr2:189189018..189193192,5	K562	blood:
2	chr2:189182622..189184644-chr2:189189029..189191672,2	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10221554	0.80[ASN][1000 genomes]
rs10931341	0.81[JPT][hapmap]
rs10931351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676580	0.84[ASN][1000 genomes]
rs12151502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389609	0.80[ASN][1000 genomes]
rs13403138	0.80[ASN][1000 genomes]
rs13416775	0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs13432874	0.80[ASN][1000 genomes]
rs16829926	0.81[JPT][hapmap]
rs34477786	0.80[ASN][1000 genomes]
rs4337443	0.81[JPT][hapmap]
rs4371324	0.80[ASN][1000 genomes]
rs4453654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4490147	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4541223	0.80[ASN][1000 genomes]
rs4552156	0.84[ASN][1000 genomes]
rs4595930	0.80[ASN][1000 genomes]
rs60577684	0.82[ASN][1000 genomes]
rs60688387	0.90[ASN][1000 genomes]
rs66579041	0.80[ASN][1000 genomes]
rs66725342	0.80[ASN][1000 genomes]
rs6707721	0.80[ASN][1000 genomes]
rs6708455	0.84[ASN][1000 genomes]
rs6714454	0.86[JPT][hapmap]
rs67324207	0.80[ASN][1000 genomes]
rs6735839	0.92[ASN][1000 genomes]
rs6749420	0.92[ASN][1000 genomes]
rs6749586	0.80[ASN][1000 genomes]
rs67775003	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68056256	0.80[ASN][1000 genomes]
rs72901564	0.80[ASN][1000 genomes]
rs72901581	0.80[ASN][1000 genomes]
rs72903517	0.84[ASN][1000 genomes]
rs72903530	0.92[ASN][1000 genomes]
rs72907635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73034491	0.96[ASN][1000 genomes]
rs73034500	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73034501	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73036412	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73036455	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73038414	0.90[ASN][1000 genomes]
rs73039927	0.80[ASN][1000 genomes]
rs73039929	0.80[ASN][1000 genomes]
rs7422317	0.90[JPT][hapmap]
rs7559554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7586536	0.80[ASN][1000 genomes]
rs7596399	0.80[ASN][1000 genomes]
rs7601023	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs9653312	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs980065	0.81[JPT][hapmap];0.80[ASN][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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
2	chr2:189182000-189191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:189182000-189192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:189183400-189197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:189183400-189198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:189183800-189198600	Weak transcription	Ovary	ovary
10	chr2:189185000-189191600	Weak transcription	Placenta	Placenta
11	chr2:189187000-189189800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:189187000-189190000	Enhancers	NHDF-Ad	bronchial
13	chr2:189187000-189190600	Enhancers	Osteobl	bone
14	chr2:189187200-189190200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:189187200-189190200	Enhancers	NHLF	lung
16	chr2:189187800-189190000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:189187800-189190200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:189187800-189190200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:189187800-189191200	Weak transcription	Fetal Intestine Large	intestine
20	chr2:189187800-189204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:189188000-189190400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:189188000-189191200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:189188000-189191200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:189188000-189191200	Weak transcription	Stomach Mucosa	stomach
25	chr2:189188000-189191400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:189188000-189191400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:189188000-189191600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:189188000-189191600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:189188200-189190400	Weak transcription	K562	blood
30	chr2:189188200-189191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:189188200-189191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:189188200-189191400	Weak transcription	Aorta	Aorta
33	chr2:189188200-189191600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:189188400-189191200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:189188600-189189600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:189188800-189189800	Enhancers	Colon Smooth Muscle	Colon
37	chr2:189188800-189191400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:189189000-189189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:189189000-189191200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:189189200-189189600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:189189200-189189600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:189189200-189190400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:189189200-189190400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:189189200-189191200	Weak transcription	A549	lung
46	chr2:189189200-189191600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:189189200-189198400	Weak transcription	HUVEC	blood vessel

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