Variant report

Variant	rs2062529
Chromosome Location	chr12:117480010-117480011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117477087..117480724-chr12:117486826..117489814,3	MCF-7	breast:
2	chr12:117470652..117475607-chr12:117477009..117480553,6	K562	blood:
3	chr12:117478356..117481644-chr12:117536617..117538572,3	K562	blood:
4	chr12:117478764..117480337-chr12:117507542..117509492,2	K562	blood:
5	chr12:117478574..117480262-chr12:117481796..117483489,2	K562	blood:
6	chr12:117474107..117476260-chr12:117479053..117480965,2	K562	blood:

Variant related genes	Relation type
ENSG00000088992	Chromatin interaction
ENSG00000258285	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10507276	0.84[JPT][hapmap]
rs10744888	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs11068326	0.83[CEU][hapmap]
rs11608681	0.85[JPT][hapmap]
rs11609741	0.84[JPT][hapmap]
rs11609917	1.00[JPT][hapmap]
rs11610361	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610984	0.84[JPT][hapmap]
rs11613556	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11614947	0.85[JPT][hapmap]
rs11615600	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062526	0.92[EUR][1000 genomes]
rs2062527	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291910	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs55986180	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56228868	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6490100	0.84[JPT][hapmap]
rs7316090	0.83[CEU][hapmap]
rs7956233	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7976384	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:117470800-117483400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117471200-117482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:117471600-117480200	Weak transcription	Esophagus	oesophagus
5	chr12:117471600-117482600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:117472000-117482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:117472600-117480200	Weak transcription	Ovary	ovary
8	chr12:117472600-117483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:117476400-117484600	Weak transcription	Dnd41	blood
10	chr12:117477400-117481200	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:117477400-117481400	Enhancers	Stomach Mucosa	stomach
12	chr12:117477400-117482800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:117477400-117482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:117477400-117483000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:117477400-117484800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:117477600-117480200	Weak transcription	HSMMtube	muscle
17	chr12:117477600-117482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:117477800-117482800	Weak transcription	Fetal Brain Female	brain
19	chr12:117478000-117482800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:117478200-117482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:117478200-117482800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:117478200-117482800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:117478400-117481600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:117478400-117482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:117478600-117480400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:117478800-117480400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:117478800-117482400	Weak transcription	Fetal Thymus	thymus
28	chr12:117479600-117480200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:117479600-117480600	Enhancers	Spleen	Spleen
30	chr12:117479600-117480800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:117479600-117481200	Enhancers	Fetal Intestine Large	intestine
32	chr12:117479600-117481200	Enhancers	Fetal Intestine Small	intestine
33	chr12:117479600-117481600	Enhancers	Left Ventricle	heart
34	chr12:117479600-117488000	Enhancers	Fetal Heart	heart
35	chr12:117479800-117480400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:117479800-117480400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:117479800-117480400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:117479800-117480400	Genic enhancers	Right Atrium	heart
39	chr12:117479800-117480400	Enhancers	Right Ventricle	heart
40	chr12:117479800-117480600	Enhancers	Placenta	Placenta
41	chr12:117479800-117480800	Enhancers	Gastric	stomach
42	chr12:117479800-117481200	Enhancers	Hela-S3	cervix
43	chr12:117479800-117481200	Flanking Active TSS	K562	blood
44	chr12:117479800-117481400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:117480000-117480200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr12:117480000-117480600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:117480000-117480600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:117480000-117480600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:117480000-117480600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:117480000-117480600	Genic enhancers	Pancreas	Pancrea

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