Variant report

Variant	rs11629054
Chromosome Location	chr14:70206417-70206418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70132759..70134809-chr14:70205522..70208289,2	MCF-7	breast:
2	chr14:70206029..70208107-chr14:70210614..70212846,2	MCF-7	breast:
3	chr14:70201940..70209552-chr14:70230630..70235494,20	MCF-7	breast:
4	chr14:70204069..70207005-chr14:70232865..70236046,4	K562	blood:
5	chr14:70202452..70213184-chr14:70231962..70238183,25	MCF-7	breast:
6	chr14:70206409..70208457-chr14:70238342..70240057,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10130926	0.92[CHD][hapmap]
rs10142686	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10143223	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10151895	0.84[CEU][hapmap];0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs11621916	1.00[JPT][hapmap]
rs11622925	0.92[CHD][hapmap]
rs11624523	0.84[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap]
rs11624532	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12431573	0.88[CEU][hapmap];0.80[CHD][hapmap]
rs17328	0.84[CEU][hapmap];0.80[CHD][hapmap]
rs1953400	0.81[ASN][1000 genomes]
rs2148503	0.82[ASN][1000 genomes]
rs2148505	0.82[ASN][1000 genomes]
rs2332167	0.84[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap]
rs3104	0.84[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs3784152	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs3784153	0.87[CEU][hapmap];0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs3809399	0.92[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4646285	0.92[CHD][hapmap]
rs4646286	0.83[CEU][hapmap];0.80[CHB][hapmap]
rs4646297	0.84[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs4902752	1.00[CHD][hapmap]
rs4902756	0.84[CEU][hapmap]
rs55987626	0.81[ASN][1000 genomes]
rs56074637	0.80[ASN][1000 genomes]
rs56140822	0.84[ASN][1000 genomes]
rs6573907	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573908	0.84[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap]
rs6573909	0.88[CEU][hapmap]
rs7142868	0.86[CEU][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153496	0.84[CEU][hapmap];0.80[CHB][hapmap];0.96[CHD][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7154439	0.84[CEU][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap]
rs72725724	0.81[ASN][1000 genomes]
rs8013598	0.81[ASN][1000 genomes]
rs8014236	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8021735	0.84[CEU][hapmap]
rs9944036	0.83[CEU][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70198400-70207400	Weak transcription	Liver	Liver
2	chr14:70200200-70207200	Weak transcription	HepG2	liver
3	chr14:70205400-70207200	Enhancers	Placenta	Placenta
4	chr14:70206000-70207000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:70206000-70208600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:70206200-70206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:70206200-70206800	Enhancers	Esophagus	oesophagus
8	chr14:70206200-70206800	Enhancers	NHEK	skin
9	chr14:70206400-70206600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70206400-70206600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr14:70206400-70206600	Enhancers	Stomach Mucosa	stomach
12	chr14:70206400-70207000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr14:70206400-70207000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:70206400-70208200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:70206400-70208200	Enhancers	HMEC	breast

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