Variant report

Variant	rs11625855
Chromosome Location	chr14:70404445-70404446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69618958..69620849-chr14:70403396..70405755,2	MCF-7	breast:
2	chr14:70402768..70405371-chr14:70458145..70461044,2	MCF-7	breast:
3	chr14:70403462..70405160-chr14:70409353..70411324,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198732	Chromatin interaction
ENSG00000139990	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10142893	1.00[CHD][hapmap]
rs34414297	0.88[ASN][1000 genomes]
rs59758662	0.94[ASN][1000 genomes]
rs60056270	0.94[ASN][1000 genomes]
rs61980648	0.94[ASN][1000 genomes]
rs61980649	0.94[ASN][1000 genomes]
rs61980650	0.94[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11625855	SIPA1L1	cis	cerebellum	SCAN
rs11625855	ARG2	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70397400-70406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70398400-70409400	Enhancers	Liver	Liver
3	chr14:70399400-70407200	Weak transcription	Brain Substantia Nigra	brain
4	chr14:70399600-70406400	Strong transcription	Hela-S3	cervix
5	chr14:70399600-70409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:70400200-70404800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:70402800-70405400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70403000-70404800	Enhancers	Pancreas	Pancrea
9	chr14:70403000-70406600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70403600-70411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70403800-70404800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr14:70403800-70406400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:70404000-70404600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr14:70404000-70405000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:70404200-70404600	Bivalent Enhancer	Fetal Lung	lung
16	chr14:70404200-70404600	Enhancers	Spleen	Spleen
17	chr14:70404200-70404800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:70404200-70404800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:70404200-70404800	Flanking Active TSS	HepG2	liver
20	chr14:70404200-70405200	Enhancers	Fetal Brain Male	brain
21	chr14:70404400-70404600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:70404400-70404600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:70404400-70405400	Weak transcription	Placenta	Placenta
24	chr14:70404400-70405600	Enhancers	Fetal Stomach	stomach
25	chr14:70404400-70405800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:70404400-70405800	Enhancers	Gastric	stomach

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