Variant report

Variant	rs12435686
Chromosome Location	chr14:70104120-70104121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70078988..70081475-chr14:70103806..70105577,2	MCF-7	breast:
2	chr14:70103316..70105220-chr14:70115351..70116992,2	MCF-7	breast:
3	chr14:70101474..70104244-chr14:70105126..70107458,2	K562	blood:
4	chr14:70095845..70098829-chr14:70103147..70105853,3	K562	blood:
5	chr14:70103180..70106093-chr14:70233573..70235342,2	K562	blood:
6	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
7	chr14:70095351..70098392-chr14:70102040..70105224,3	MCF-7	breast:
8	chr14:70103896..70106224-chr14:70117307..70118955,2	MCF-7	breast:
9	chr14:70070411..70072441-chr14:70102031..70104463,2	MCF-7	breast:
10	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:
11	chr14:70102489..70105058-chr14:70116794..70119133,2	K562	blood:
12	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1109652	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12589913	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs12590789	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1275824	0.80[CHB][hapmap]
rs1275828	0.83[CHB][hapmap]
rs12895185	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2152373	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2224541	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4899308	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs6573897	0.80[ASN][1000 genomes]
rs7146578	0.89[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs8008410	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs875424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs945311	0.89[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]

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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70093800-70107400	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:70094800-70105600	Enhancers	Right Ventricle	heart
3	chr14:70094800-70106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:70095000-70104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
6	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr14:70095400-70106600	Enhancers	Psoas Muscle	Psoas
8	chr14:70095400-70107000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr14:70095600-70105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:70095600-70105800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr14:70095600-70106800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:70095800-70106200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70095800-70106400	Enhancers	Adipose Nuclei	Adipose
14	chr14:70097400-70105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:70097600-70105600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:70097600-70106400	Enhancers	HMEC	breast
17	chr14:70097800-70105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:70098000-70104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:70098000-70104200	Enhancers	HepG2	liver
20	chr14:70098200-70105800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:70098400-70105600	Enhancers	HSMMtube	muscle
22	chr14:70098400-70106600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:70098600-70105600	Enhancers	Fetal Lung	lung
24	chr14:70099000-70104200	Weak transcription	HSMM	muscle
25	chr14:70099200-70105600	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:70099200-70106800	Enhancers	Stomach Mucosa	stomach
27	chr14:70099400-70104200	Weak transcription	NH-A	brain
28	chr14:70099400-70106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:70099800-70104200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr14:70100000-70105200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:70100200-70104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:70100200-70105200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr14:70100400-70104200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:70100400-70105400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:70100400-70105800	Enhancers	Brain Angular Gyrus	brain
36	chr14:70100400-70105800	Enhancers	Fetal Heart	heart
37	chr14:70100600-70104200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:70100600-70104400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:70100800-70104400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:70100800-70105200	Enhancers	Brain Substantia Nigra	brain
41	chr14:70101000-70104200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:70101000-70104400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:70101200-70104200	Weak transcription	A549	lung
44	chr14:70101200-70104400	Weak transcription	NHEK	skin
45	chr14:70101200-70105800	Enhancers	Fetal Thymus	thymus
46	chr14:70101200-70106600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:70101400-70106400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:70101600-70104800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:70101600-70105200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:70101600-70105200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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