Variant report

Variant	rs12453020
Chromosome Location	chr17:66396852-66396853
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66283412..66291453-chr17:66391949..66401713,36	MCF-7	breast:
2	chr17:66285328..66292038-chr17:66391246..66397817,23	MCF-7	breast:
3	chr17:66394957..66397009-chr17:66453203..66454984,2	K562	blood:

Variant related genes	Relation type
ENSG00000070540	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000108932	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1002446	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.89[ASN][1000 genomes]
rs11077542	0.86[ASW][hapmap];0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11870010	0.86[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12943181	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12945490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12946747	1.00[ASW][hapmap];0.82[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs12947036	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12948224	0.88[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59439636	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66391400-66397600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:66392000-66398000	Enhancers	Fetal Thymus	thymus
3	chr17:66392600-66397000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:66392600-66397600	Enhancers	Thymus	Thymus
5	chr17:66392800-66397000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr17:66392800-66397200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:66393000-66397000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:66393000-66397200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr17:66393600-66398400	Weak transcription	Right Atrium	heart
10	chr17:66394200-66397200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr17:66394400-66397400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr17:66394400-66397600	Enhancers	HepG2	liver
13	chr17:66394400-66397800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:66394800-66397000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr17:66394800-66397000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr17:66394800-66397000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr17:66394800-66397200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr17:66394800-66397400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:66394800-66397800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:66395000-66397000	Enhancers	Dnd41	blood
21	chr17:66395000-66397000	Enhancers	HSMMtube	muscle
22	chr17:66395000-66397600	Enhancers	Fetal Muscle Trunk	muscle
23	chr17:66395200-66398000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:66395200-66401800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:66395200-66416000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:66395400-66397400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:66395400-66399600	Weak transcription	Brain Anterior Caudate	brain
28	chr17:66395400-66415800	Weak transcription	Right Ventricle	heart
29	chr17:66395600-66409800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:66395600-66410000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr17:66396000-66399200	Weak transcription	Adipose Nuclei	Adipose
32	chr17:66396000-66401000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:66396200-66397200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:66396200-66400200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr17:66396400-66397000	Enhancers	Osteobl	bone
36	chr17:66396400-66397600	Weak transcription	Placenta	Placenta
37	chr17:66396400-66399400	Weak transcription	Psoas Muscle	Psoas
38	chr17:66396600-66397000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:66396600-66397200	Enhancers	NHDF-Ad	bronchial
40	chr17:66396600-66399200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:66396800-66397200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:66396800-66398000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:66396800-66399400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr17:66396800-66409800	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links