Variant report

Variant	rs61980658
Chromosome Location	chr14:70415902-70415903
allele	C/T
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	chr14:70415707-70417120	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:70415864-70416068	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:70415665-70416350	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70415189..70417750-chr14:70418196..70420827,2	MCF-7	breast:
2	chr14:70412865..70415128-chr14:70415541..70417322,2	MCF-7	breast:
3	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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12184944	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59949074	0.96[EUR][1000 genomes]
rs61977383	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61977384	0.87[AMR][1000 genomes];0.98[EUR][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]
rs61980657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61981599	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981600	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981601	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981602	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61981761	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981762	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981763	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981764	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61981765	0.87[AMR][1000 genomes];0.98[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70412400-70417200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:70413600-70418400	Weak transcription	Fetal Brain Female	brain
3	chr14:70414200-70416200	Enhancers	Liver	Liver
4	chr14:70414600-70416200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:70414600-70416200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
7	chr14:70415200-70416200	Enhancers	Brain Hippocampus Middle	brain
8	chr14:70415400-70416000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:70415400-70416200	Enhancers	Brain Anterior Caudate	brain
10	chr14:70415400-70434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70415600-70416000	Enhancers	Brain Substantia Nigra	brain
12	chr14:70415600-70416200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:70415600-70419600	Weak transcription	HepG2	liver
14	chr14:70415800-70416000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:70415800-70416000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:70415800-70416000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr14:70415800-70416200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70415800-70416200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:70415800-70416400	Weak transcription	Fetal Stomach	stomach
20	chr14:70415800-70417600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:70415800-70420000	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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