Variant report

Variant	rs14411
Chromosome Location	chr14:70282243-70282244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70276572..70278716-chr14:70281212..70282765,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMOC1-1	chr14:70281982-70283285	XLOC_010860

Extended variants
information (count: 79 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10130926	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10136397	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136529	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10146537	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148404	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621916	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs11622580	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs11622925	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623262	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11624532	0.92[CEU][hapmap];0.81[CHB][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs11625731	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs11625932	0.92[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes]
rs11626145	0.84[EUR][1000 genomes]
rs11627012	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627089	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11628546	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11628665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12431573	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13313365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313388	0.96[ASN][1000 genomes]
rs17328	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1953399	0.89[EUR][1000 genomes]
rs2332167	0.85[JPT][hapmap]
rs28404963	0.86[EUR][1000 genomes]
rs28437671	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437822	0.92[EUR][1000 genomes]
rs28480224	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490548	0.82[ASN][1000 genomes]
rs2877595	0.86[EUR][1000 genomes]
rs2877598	0.95[ASN][1000 genomes]
rs28785205	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28847646	0.85[EUR][1000 genomes]
rs3104	0.85[JPT][hapmap]
rs3784153	0.84[JPT][hapmap]
rs3809399	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4646285	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4646286	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4899311	0.88[EUR][1000 genomes]
rs4899313	0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs4902752	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4902753	0.88[EUR][1000 genomes]
rs4902756	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4902757	0.91[ASN][1000 genomes]
rs55724465	0.92[EUR][1000 genomes]
rs55987626	0.85[EUR][1000 genomes]
rs56074637	0.89[EUR][1000 genomes]
rs56140822	0.86[EUR][1000 genomes]
rs56177148	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57492222	0.89[EUR][1000 genomes]
rs58582364	0.95[EUR][1000 genomes]
rs59066042	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59172911	0.86[EUR][1000 genomes]
rs61356864	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573905	0.86[EUR][1000 genomes]
rs6573906	0.86[EUR][1000 genomes]
rs6573909	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7153985	0.85[EUR][1000 genomes]
rs7154439	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7160953	0.90[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs7161476	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs72725718	0.86[EUR][1000 genomes]
rs72725724	0.89[EUR][1000 genomes]
rs72725740	0.92[EUR][1000 genomes]
rs72725743	0.95[EUR][1000 genomes]
rs72725745	0.95[EUR][1000 genomes]
rs72725773	0.84[EUR][1000 genomes]
rs72725776	0.87[EUR][1000 genomes]
rs72725780	0.87[EUR][1000 genomes]
rs8005609	0.97[ASN][1000 genomes]
rs8010836	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs8021735	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3380898	chr14:70278336-70282507	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3530661	chr14:70280183-70282696	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv3530662	chr14:70280183-70282696	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs14411	ERH	cis	parietal	SCAN
rs14411	SLC8A3	cis	parietal	SCAN
rs14411	TTC9	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70280000-70284000	Weak transcription	Liver	Liver
2	chr14:70280000-70285200	Weak transcription	Hela-S3	cervix
3	chr14:70280200-70282800	Enhancers	Fetal Intestine Large	intestine
4	chr14:70280200-70282800	Enhancers	Fetal Intestine Small	intestine
5	chr14:70281000-70282400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:70281200-70285200	Weak transcription	HepG2	liver
7	chr14:70281600-70283200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:70282000-70282600	Enhancers	Placenta	Placenta
9	chr14:70282000-70283000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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