Variant report

Variant	rs1295831
Chromosome Location	chr14:70376369-70376370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10782458	1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11627546	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11627960	0.83[CHD][hapmap]
rs1275842	0.94[ASW][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.88[AFR][1000 genomes]
rs1275844	1.00[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1275847	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1275849	1.00[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12891712	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1291302	0.80[CEU][hapmap]
rs1295830	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952202	1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2148501	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2225056	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34045839	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4528503	0.83[CHD][hapmap]
rs4899321	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4902765	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902766	0.86[AMR][1000 genomes];0.90[EUR][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	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
2	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
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv523796	chr14:70374122-70386743	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70364000-70387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:70368600-70377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70368800-70379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:70368800-70379600	Weak transcription	Liver	Liver
5	chr14:70369200-70376600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:70371400-70377000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:70371400-70377200	Weak transcription	HepG2	liver
8	chr14:70372000-70388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70372400-70382600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70373200-70377000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:70373600-70383600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:70375200-70378200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:70375200-70378200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:70375200-70378400	Enhancers	Brain Substantia Nigra	brain
15	chr14:70375400-70378200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70375600-70377400	Weak transcription	Brain Germinal Matrix	brain
17	chr14:70375800-70376400	Genic enhancers	Hela-S3	cervix
18	chr14:70375800-70378400	Enhancers	Brain Hippocampus Middle	brain
19	chr14:70376200-70377400	Enhancers	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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