Variant report

Variant	rs61980627
Chromosome Location	chr14:70379215-70379216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70376176..70378536-chr14:70378709..70380533,2	MCF-7	breast:
2	chr14:70377640..70380047-chr14:70391556..70394013,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11627910	0.94[ASN][1000 genomes]
rs11627960	0.94[ASN][1000 genomes]
rs1958080	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1958081	0.83[AFR][1000 genomes]
rs1958082	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1958083	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1958084	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35494931	0.94[ASN][1000 genomes]
rs4528503	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57951641	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59691011	0.94[AFR][1000 genomes]
rs59997769	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980568	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61980569	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61980570	0.94[ASN][1000 genomes]
rs61980571	0.94[ASN][1000 genomes]
rs61980573	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980574	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980575	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980576	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980615	0.94[ASN][1000 genomes]
rs61980616	0.94[ASN][1000 genomes]
rs61980617	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980618	0.94[ASN][1000 genomes]
rs61980619	1.00[ASN][1000 genomes]
rs61980621	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980622	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980628	0.94[ASN][1000 genomes]
rs61980629	0.94[ASN][1000 genomes]
rs61980630	0.94[ASN][1000 genomes]
rs6573916	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7142807	0.94[AFR][1000 genomes]
rs7154248	0.88[AFR][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:16 , 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	chr14:70368800-70379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:70368800-70379600	Weak transcription	Liver	Liver
4	chr14:70372000-70388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:70372400-70382600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:70373600-70383600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:70377400-70384000	Weak transcription	Fetal Brain Male	brain
8	chr14:70377800-70394400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:70378000-70379400	Weak transcription	HepG2	liver
10	chr14:70378000-70379800	Weak transcription	Fetal Stomach	stomach
11	chr14:70378000-70382000	Weak transcription	Hela-S3	cervix
12	chr14:70378200-70384000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:70378400-70388000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:70378600-70381800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70379200-70379400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:70379200-70383800	Enhancers	Cortex derived primary cultured neurospheres	brain

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