Variant report

Variant	rs61980657
Chromosome Location	chr14:70415289-70415290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70415144-70415350	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70415189..70417750-chr14:70418196..70420827,2	MCF-7	breast:
2	chr14:70414180..70416147-chr14:70421298..70424098,2	MCF-7	breast:

Variant related genes	Relation type
SMOC1	TF binding region
ENSG00000198732	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10142893	1.00[ASN][1000 genomes]
rs12184944	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185053	1.00[ASN][1000 genomes]
rs28609860	1.00[ASN][1000 genomes]
rs59949074	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977383	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977384	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977387	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61977388	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61977389	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61977390	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61980655	0.86[EUR][1000 genomes]
rs61980656	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61981598	1.00[ASN][1000 genomes]
rs61981599	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981600	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981601	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981602	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981761	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981762	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981763	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981764	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981765	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981766	1.00[ASN][1000 genomes]
rs61981767	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70410000-70415800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:70412200-70415800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:70412400-70417200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:70413000-70415600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70413600-70418400	Weak transcription	Fetal Brain Female	brain
6	chr14:70414200-70416200	Enhancers	Liver	Liver
7	chr14:70414400-70415600	Enhancers	HepG2	liver
8	chr14:70414400-70415800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:70414600-70415800	Enhancers	Fetal Stomach	stomach
10	chr14:70414600-70416200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70414600-70416200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
13	chr14:70415000-70415400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:70415000-70415800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70415000-70415800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:70415000-70415800	Enhancers	Fetal Muscle Leg	muscle
17	chr14:70415200-70415600	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:70415200-70416200	Enhancers	Brain Hippocampus Middle	brain

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