Variant report

Variant	rs6134825
Chromosome Location	chr20:13213072-13213073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:48176778..48178872-chr20:13212572..13214916,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1060580	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073377	0.98[ASN][1000 genomes]
rs1073378	0.86[CHB][hapmap];0.90[ASN][1000 genomes]
rs12624775	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[ASN][1000 genomes]
rs12625420	0.98[ASN][1000 genomes]
rs1407333	0.98[ASN][1000 genomes]
rs1407334	0.98[ASN][1000 genomes]
rs1407336	0.91[ASN][1000 genomes]
rs1407337	0.91[ASN][1000 genomes]
rs1407338	0.98[ASN][1000 genomes]
rs1819168	0.91[ASN][1000 genomes]
rs1819169	0.91[ASN][1000 genomes]
rs1819170	0.90[ASN][1000 genomes]
rs1923347	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs1923348	0.98[ASN][1000 genomes]
rs34656017	0.90[ASN][1000 genomes]
rs35637805	0.95[ASN][1000 genomes]
rs4813119	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4814206	0.91[ASN][1000 genomes]
rs4814207	0.98[ASN][1000 genomes]
rs4814208	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[ASN][1000 genomes]
rs4814209	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4814210	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57877502	0.91[ASN][1000 genomes]
rs59744070	0.87[ASN][1000 genomes]
rs6105055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105057	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6105058	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs6109767	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109768	0.91[ASN][1000 genomes]
rs6109769	0.91[ASN][1000 genomes]
rs6109770	0.91[ASN][1000 genomes]
rs6109772	0.91[ASN][1000 genomes]
rs6109773	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109774	0.98[ASN][1000 genomes]
rs6109775	0.98[ASN][1000 genomes]
rs6109776	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6109777	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[ASN][1000 genomes]
rs6109778	0.92[ASN][1000 genomes]
rs6109779	0.90[ASN][1000 genomes]
rs6109780	0.97[ASN][1000 genomes]
rs6109781	0.95[CHB][hapmap];0.92[CHD][hapmap];0.90[ASN][1000 genomes]
rs6109782	0.90[ASN][1000 genomes]
rs6131455	0.98[ASN][1000 genomes]
rs6131456	0.98[ASN][1000 genomes]
rs6134826	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6134827	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6134830	0.85[ASN][1000 genomes]
rs6134831	0.91[ASN][1000 genomes]
rs6134834	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[ASN][1000 genomes]
rs6134835	0.92[ASN][1000 genomes]
rs6134836	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs721243	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7263654	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv912684	chr20:12734299-13311983	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1067036	chr20:12737436-13338337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3488304	chr20:12738054-13341279	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3488305	chr20:12738054-13341279	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv518184	chr20:12743808-13344672	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1063587	chr20:12756524-13330103	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544185	chr20:12756524-13330103	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv916296	chr20:12756605-13329940	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1067720	chr20:12756725-13329963	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv532513	chr20:12756725-13329963	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1064901	chr20:12773504-13318421	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv912685	chr20:13134768-13234124	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv912686	chr20:13205338-13311983	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6134825	SNRPB2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13203600-13229800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr20:13209200-13213200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr20:13209200-13213400	Enhancers	Primary T cells from cord blood	blood
4	chr20:13209200-13213600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr20:13211200-13213200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:13212000-13215600	Weak transcription	Liver	Liver
7	chr20:13212200-13213200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr20:13212200-13213400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr20:13212200-13213400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr20:13212200-13214600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr20:13212400-13213600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr20:13212400-13213600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr20:13212400-13216000	Weak transcription	Placenta	Placenta
14	chr20:13212600-13215600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr20:13212600-13226600	Weak transcription	Dnd41	blood
16	chr20:13212800-13218000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:13212800-13218400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr20:13212800-13224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:13212800-13224200	Weak transcription	NHEK	skin
20	chr20:13213000-13215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:13213000-13218400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr20:13213000-13219000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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