Variant report

Variant	rs170569
Chromosome Location	chr14:70458251-70458252
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	chr14:70456335-70461656	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:70456315-70459260	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:70458149-70458616	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70458044..70460070-chr14:70460426..70463447,3	MCF-7	breast:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10130486	1.00[CHB][hapmap]
rs10140220	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10140517	0.96[ASN][1000 genomes]
rs10140592	0.96[ASN][1000 genomes]
rs10140789	0.96[ASN][1000 genomes]
rs11628205	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11844519	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs12884121	1.00[CHB][hapmap]
rs1380433	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17107529	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17107549	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs17107556	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17107580	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs227415	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs227418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70439000-70458800	Weak transcription	Gastric	stomach
2	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
3	chr14:70450000-70458600	Weak transcription	Aorta	Aorta
4	chr14:70450600-70464800	Weak transcription	Fetal Stomach	stomach
5	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
6	chr14:70451800-70459200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:70452400-70458400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70452800-70460600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:70453000-70464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:70453200-70458600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:70453200-70462600	Weak transcription	NHEK	skin
12	chr14:70453600-70462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:70454600-70458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:70454800-70460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:70455800-70458600	Enhancers	Liver	Liver
16	chr14:70456400-70458600	Enhancers	Brain Germinal Matrix	brain
17	chr14:70456400-70459200	Enhancers	Brain Hippocampus Middle	brain
18	chr14:70456800-70459000	Enhancers	Fetal Intestine Large	intestine
19	chr14:70456800-70463800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:70456800-70463800	Weak transcription	Pancreas	Pancrea
21	chr14:70457000-70459400	Weak transcription	Hela-S3	cervix
22	chr14:70457400-70464200	Weak transcription	HepG2	liver
23	chr14:70457800-70458400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:70457800-70459200	Enhancers	Stomach Mucosa	stomach
25	chr14:70457800-70459600	Enhancers	Fetal Intestine Small	intestine
26	chr14:70457800-70484800	Weak transcription	Brain Substantia Nigra	brain
27	chr14:70458200-70458800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:70458200-70458800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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