Variant report

Variant	rs11623388
Chromosome Location	chr14:70409732-70409733
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	chr14:70403462..70405160-chr14:70409353..70411324,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10136272	1.00[ASN][1000 genomes]
rs10136306	1.00[ASN][1000 genomes]
rs10136530	1.00[ASN][1000 genomes]
rs10139476	1.00[ASN][1000 genomes]
rs10483829	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158825	1.00[ASN][1000 genomes]
rs11620760	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621903	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627861	1.00[ASN][1000 genomes]
rs11629028	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629320	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847692	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141280	1.00[ASN][1000 genomes]
rs66884428	1.00[ASN][1000 genomes]
rs68165911	1.00[ASN][1000 genomes]
rs7161219	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73289085	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73289098	0.90[EUR][1000 genomes]
rs8003186	0.90[EUR][1000 genomes];1.00[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70403600-70411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70404800-70409800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70405200-70410800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:70407000-70410400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:70407800-70411200	Enhancers	Pancreas	Pancrea
6	chr14:70408400-70410800	Enhancers	Fetal Intestine Large	intestine
7	chr14:70408600-70410200	Enhancers	Stomach Mucosa	stomach
8	chr14:70408800-70410400	Flanking Active TSS	HepG2	liver
9	chr14:70408800-70410800	Enhancers	Fetal Intestine Small	intestine
10	chr14:70409000-70409800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr14:70409000-70410400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:70409000-70410600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:70409000-70410600	Strong transcription	Hela-S3	cervix
14	chr14:70409400-70409800	Flanking Active TSS	Liver	Liver
15	chr14:70409400-70409800	Enhancers	Small Intestine	intestine
16	chr14:70409400-70410200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:70409400-70410400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70409400-70410800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:70409400-70411000	Enhancers	Gastric	stomach
20	chr14:70409600-70410000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:70409600-70410600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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