Variant report

Variant	rs227415
Chromosome Location	chr14:70460631-70460632
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	chr14:70456335-70461656	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:70459667-70460803	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:70459525-70460954	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:70460503-70461244	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
SMOC1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11844519	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs170569	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17107549	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs227418	0.89[CEU][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs227421	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.87[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
2	chr14:70450600-70464800	Weak transcription	Fetal Stomach	stomach
3	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
4	chr14:70453000-70464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:70453200-70462600	Weak transcription	NHEK	skin
6	chr14:70453600-70462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:70454800-70460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:70456800-70463800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:70456800-70463800	Weak transcription	Pancreas	Pancrea
10	chr14:70457400-70464200	Weak transcription	HepG2	liver
11	chr14:70457800-70484800	Weak transcription	Brain Substantia Nigra	brain
12	chr14:70458400-70464600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70458600-70463800	Weak transcription	Liver	Liver
14	chr14:70458600-70480800	Weak transcription	Brain Germinal Matrix	brain
15	chr14:70458800-70464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:70458800-70465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:70459000-70461400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:70459000-70461400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:70459000-70484800	Weak transcription	Gastric	stomach
20	chr14:70459400-70462200	Genic enhancers	Hela-S3	cervix
21	chr14:70460000-70473800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:70460200-70468000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:70460400-70461000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:70460400-70472200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:70460600-70460800	Bivalent Enhancer	Left Ventricle	heart
26	chr14:70460600-70461200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links