Variant report

Variant	rs11159246
Chromosome Location	chr14:77481725-77481726
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77423651..77425310-chr14:77480209..77482194,2	MCF-7	breast:
2	chr14:77470086..77472211-chr14:77479278..77481891,2	MCF-7	breast:
3	chr14:77474294..77478619-chr14:77478898..77482845,7	MCF-7	breast:
4	chr14:77379922..77383253-chr14:77480638..77482466,3	MCF-7	breast:
5	chr14:77472463..77474127-chr14:77478957..77481892,2	MCF-7	breast:
6	chr14:77418514..77432216-chr14:77468884..77482085,46	MCF-7	breast:
7	chr14:77403797..77406058-chr14:77480464..77483234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258602	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10873300	0.82[CHD][hapmap]
rs12431429	0.82[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs1558858	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs183266	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.90[ASN][1000 genomes]
rs1861737	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];0.98[ASN][1000 genomes]
rs1990737	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs205805	0.90[CHB][hapmap]
rs205811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs205816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs205817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs28498055	1.00[MEX][hapmap]
rs4899632	0.88[EUR][1000 genomes]
rs4903532	0.89[ASN][1000 genomes]
rs4903536	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7142306	0.81[ASN][1000 genomes]
rs8019227	1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[ASN][1000 genomes]
rs9323635	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv1037915	chr14:77461610-77561454	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv542142	chr14:77461610-77561454	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv565210	chr14:77461701-77492891	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1792437	chr14:77468802-77529928	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77468400-77485200	Enhancers	Placenta	Placenta
2	chr14:77476600-77488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:77478000-77482000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:77478400-77481800	Enhancers	Right Atrium	heart
5	chr14:77478400-77482200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:77478400-77488000	Weak transcription	Thymus	Thymus
7	chr14:77478400-77490000	Weak transcription	Primary T cells from cord blood	blood
8	chr14:77478600-77482200	Enhancers	Fetal Heart	heart
9	chr14:77479200-77481800	Enhancers	Fetal Muscle Trunk	muscle
10	chr14:77479600-77482200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:77480000-77481800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:77480000-77481800	Enhancers	Fetal Stomach	stomach
13	chr14:77480000-77482200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:77480200-77481800	Enhancers	Gastric	stomach
15	chr14:77480200-77482000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:77480200-77482000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:77480200-77482000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:77480200-77482000	Enhancers	Esophagus	oesophagus
19	chr14:77480400-77481800	Enhancers	Fetal Kidney	kidney
20	chr14:77480600-77484000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:77480800-77481800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:77480800-77488200	Weak transcription	Fetal Brain Male	brain
23	chr14:77480800-77489000	Weak transcription	Lung	lung
24	chr14:77481000-77481800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:77481000-77482200	Weak transcription	Stomach Mucosa	stomach
26	chr14:77481000-77482800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:77481000-77484000	Weak transcription	Fetal Thymus	thymus
28	chr14:77481000-77488800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:77481000-77489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:77481200-77482600	Weak transcription	Adipose Nuclei	Adipose
31	chr14:77481200-77485400	Enhancers	HepG2	liver
32	chr14:77481200-77488000	Weak transcription	Brain Germinal Matrix	brain
33	chr14:77481200-77488200	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:77481200-77488600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:77481400-77481800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:77481400-77481800	Weak transcription	Pancreas	Pancrea
37	chr14:77481400-77484000	Weak transcription	Fetal Lung	lung
38	chr14:77481400-77486600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:77481400-77488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:77481400-77488800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:77481600-77482600	Weak transcription	Liver	Liver

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