Variant report

Variant	rs60048839
Chromosome Location	chr14:70416335-70416336
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	chr14:70415707-70417120	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:70415665-70416350	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	chr14:70412865..70415128-chr14:70415541..70417322,2	MCF-7	breast:

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11848277	1.00[EUR][1000 genomes]
rs2069109	1.00[EUR][1000 genomes]
rs28456261	1.00[EUR][1000 genomes]
rs28468655	1.00[EUR][1000 genomes]
rs55668218	1.00[AMR][1000 genomes]
rs55677947	1.00[AMR][1000 genomes]
rs56290405	1.00[EUR][1000 genomes]
rs56723492	1.00[EUR][1000 genomes]
rs56837831	1.00[EUR][1000 genomes]
rs57139172	1.00[EUR][1000 genomes]
rs57292391	1.00[EUR][1000 genomes]
rs57709257	1.00[EUR][1000 genomes]
rs59017109	1.00[AMR][1000 genomes]
rs59710581	1.00[AMR][1000 genomes]
rs61059545	1.00[EUR][1000 genomes]
rs61226888	1.00[EUR][1000 genomes]
rs61253398	1.00[EUR][1000 genomes]
rs6573926	1.00[EUR][1000 genomes]
rs7148591	1.00[EUR][1000 genomes]
rs7150074	1.00[EUR][1000 genomes]
rs73285222	1.00[AMR][1000 genomes]
rs74060478	1.00[AMR][1000 genomes]
rs74060484	1.00[AMR][1000 genomes]
rs74060497	1.00[AMR][1000 genomes]
rs74060550	1.00[AMR][1000 genomes]
rs74060553	1.00[AMR][1000 genomes]
rs74060556	1.00[AMR][1000 genomes]
rs74060568	1.00[AMR][1000 genomes]
rs74060569	1.00[AMR][1000 genomes]
rs74060570	1.00[AMR][1000 genomes]
rs74060572	1.00[AMR][1000 genomes]
rs74060574	1.00[AMR][1000 genomes]
rs74060658	1.00[EUR][1000 genomes]
rs74060659	1.00[EUR][1000 genomes]
rs74060660	1.00[EUR][1000 genomes]
rs74060661	1.00[EUR][1000 genomes]
rs74060662	1.00[EUR][1000 genomes]
rs74060663	1.00[EUR][1000 genomes]
rs74060677	1.00[EUR][1000 genomes]
rs74060680	1.00[EUR][1000 genomes]
rs74061016	1.00[EUR][1000 genomes]
rs74061017	1.00[EUR][1000 genomes]
rs74061419	1.00[AMR][1000 genomes]
rs74061423	1.00[AMR][1000 genomes]
rs74061428	1.00[AMR][1000 genomes]
rs74061431	1.00[AMR][1000 genomes]
rs74061432	1.00[AMR][1000 genomes]
rs74061434	1.00[AMR][1000 genomes]
rs74061442	1.00[AMR][1000 genomes]
rs8022592	1.00[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:20 , 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	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
4	chr14:70415400-70434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:70415600-70419600	Weak transcription	HepG2	liver
6	chr14:70415800-70416400	Weak transcription	Fetal Stomach	stomach
7	chr14:70415800-70417600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:70415800-70420000	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:70416000-70416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:70416000-70418600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:70416000-70418800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:70416000-70422600	Weak transcription	Brain Substantia Nigra	brain
14	chr14:70416200-70416600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:70416200-70418400	Weak transcription	Liver	Liver
16	chr14:70416200-70418600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:70416200-70418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70416200-70418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:70416200-70418800	Weak transcription	Brain Anterior Caudate	brain
20	chr14:70416200-70421800	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links