Variant report

Variant	rs1930127
Chromosome Location	chr1:152780277-152780278
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152775705..152778056-chr1:152780040..152782015,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197084	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10157301	0.80[EUR][1000 genomes]
rs1048535	0.91[CEU][hapmap];0.82[GIH][hapmap];0.83[EUR][1000 genomes]
rs10494277	0.95[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap]
rs10788847	0.83[CEU][hapmap]
rs10888514	0.87[CEU][hapmap]
rs11205086	0.83[CEU][hapmap]
rs11578927	0.95[CEU][hapmap];0.82[GIH][hapmap];0.85[MEX][hapmap]
rs11580565	0.83[CHD][hapmap]
rs11581045	0.84[EUR][1000 genomes]
rs11586156	0.95[CEU][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap]
rs11587012	0.87[CEU][hapmap];0.82[GIH][hapmap];0.80[MEX][hapmap]
rs12094874	0.81[EUR][1000 genomes]
rs12239774	0.95[CEU][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap]
rs12725760	0.95[CEU][hapmap]
rs12754243	0.86[CEU][hapmap]
rs1332498	0.83[CEU][hapmap]
rs1412548	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs1591077	0.95[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs1888963	0.83[CEU][hapmap]
rs2339381	0.95[CEU][hapmap]
rs2879458	0.91[CEU][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap]
rs34384421	0.80[EUR][1000 genomes]
rs3814350	0.83[CEU][hapmap]
rs4539140	0.95[CEU][hapmap]
rs4845467	0.82[CEU][hapmap]
rs4845468	0.83[CEU][hapmap]
rs4845469	0.83[CEU][hapmap]
rs4845473	0.87[CEU][hapmap]
rs4845482	0.95[CEU][hapmap];0.82[GIH][hapmap];0.85[MEX][hapmap];0.80[EUR][1000 genomes]
rs6587706	0.86[EUR][1000 genomes]
rs7524281	0.87[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs7534164	0.83[CEU][hapmap]
rs7545543	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv428521	chr1:152663153-152831578	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv947325	chr1:152670204-152793272	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	esv2763813	chr1:152687058-152780522	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv508615	chr1:152724155-152787503	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1004884	chr1:152724514-152780522	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv999918	chr1:152749733-152861866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv1799675	chr1:152759643-152785456	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1007453	chr1:152761911-152780277	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv997985	chr1:152761911-152780522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv1010346	chr1:152761911-152787707	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv1012943	chr1:152762750-152787707	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1009885	chr1:152762750-152851273	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1930127	LCE1E	cis	Skin Sun Exposed Lower leg	GTEx
rs1930127	SMCP	cis	cerebellum	SCAN
rs1930127	LCE1D	cis	Skin Sun Exposed Lower leg	GTEx
rs1930127	LCE1E	cis	uninvolved skin	skin_eQTL
rs1930127	HIST2H2BE	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152779400-152783600	Weak transcription	Esophagus	oesophagus
2	chr1:152779600-152783000	Weak transcription	NHEK	skin
3	chr1:152779600-152783200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:152779600-152783200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:152779600-152783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:152779600-152783400	Weak transcription	HMEC	breast
7	chr1:152779600-152783600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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