Variant report

Variant	rs61983475
Chromosome Location	chr14:70316535-70316536
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	HEY1	chr14:70316409-70317358	HepG2	liver:	n/a	chr14:70317162-70317177
2	MYC	chr14:70316529-70316663	MCF-7	breast:	n/a	n/a
3	HEY1	chr14:70316364-70317793	HepG2	liver:	n/a	chr14:70317162-70317177
4	POLR2A	chr14:70315656-70317692	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:70316339-70317423	HepG2	liver:	n/a	n/a
6	MAX	chr14:70316322-70317446	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:70315812-70317406	HepG2	liver:	n/a	n/a
8	MXI1	chr14:70316498-70317923	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70314565..70316766-chr14:70494055..70496568,2	MCF-7	breast:

Variant related genes	Relation type
SMOC1	TF binding region

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10498531	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11844140	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2094273	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2094274	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2182521	0.99[EUR][1000 genomes]
rs4293310	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4508369	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55702672	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55813576	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56011122	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56019785	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61982148	0.82[AMR][1000 genomes]
rs61982149	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61982152	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61982154	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61982155	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61982156	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61983461	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61983462	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61983464	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61983474	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61983476	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61983519	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61983520	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7157732	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72725783	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72725796	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72725797	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70311200-70316800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:70313200-70318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70315000-70316800	Enhancers	Placenta	Placenta
4	chr14:70315000-70317400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70315200-70316600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr14:70315200-70316600	Enhancers	Psoas Muscle	Psoas
7	chr14:70315200-70316600	Enhancers	Hela-S3	cervix
8	chr14:70315200-70316800	Enhancers	Brain Germinal Matrix	brain
9	chr14:70315200-70316800	Enhancers	Fetal Muscle Leg	muscle
10	chr14:70315600-70316600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70315800-70316600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:70315800-70317400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:70316000-70316600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:70316000-70316600	Weak transcription	Liver	Liver
15	chr14:70316000-70316800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:70316000-70316800	Flanking Active TSS	HepG2	liver
17	chr14:70316200-70316600	Enhancers	Fetal Brain Female	brain
18	chr14:70316200-70317000	Enhancers	HSMMtube	muscle
19	chr14:70316200-70320000	Enhancers	Fetal Brain Male	brain
20	chr14:70316400-70316600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:70316400-70316600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr14:70316400-70316800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:70316400-70317800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links