Variant report

Variant	rs227395
Chromosome Location	chr14:70409157-70409158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70399354..70401514-chr14:70407995..70410127,2	K562	blood:
2	chr14:70382423..70384132-chr14:70408003..70410607,2	MCF-7	breast:
3	chr14:70232133..70234302-chr14:70406991..70409377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1276120	0.88[CHD][hapmap]
rs170567	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs190133	0.86[CHD][hapmap]
rs227388	0.83[CHD][hapmap]
rs227396	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs227397	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[ASN][1000 genomes]
rs227398	0.94[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs8003679	0.83[CHD][hapmap]
rs927414	0.84[CEU][hapmap];0.86[CHD][hapmap]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70398400-70409400	Enhancers	Liver	Liver
2	chr14:70399600-70409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:70403600-70411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:70404800-70409400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70404800-70409800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70405200-70410800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:70405800-70409400	Weak transcription	Gastric	stomach
8	chr14:70407000-70409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70407000-70410400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70407800-70411200	Enhancers	Pancreas	Pancrea
11	chr14:70408400-70409600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:70408400-70410800	Enhancers	Fetal Intestine Large	intestine
13	chr14:70408600-70409600	Enhancers	A549	lung
14	chr14:70408600-70410200	Enhancers	Stomach Mucosa	stomach
15	chr14:70408800-70409600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:70408800-70410400	Flanking Active TSS	HepG2	liver
17	chr14:70408800-70410800	Enhancers	Fetal Intestine Small	intestine
18	chr14:70409000-70409800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr14:70409000-70410400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:70409000-70410600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:70409000-70410600	Strong transcription	Hela-S3	cervix

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