Variant report

Variant	rs2785173
Chromosome Location	chr11:35155732-35155733
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	chr11:35155392..35158105-chr11:35159031..35160697,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255521	Chromatin interaction
ENSG00000026508	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10488808	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11826767	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs2732575	0.88[ASN][1000 genomes]
rs2732577	0.80[ASN][1000 genomes]
rs2785179	0.88[ASN][1000 genomes]
rs353560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353562	0.88[ASN][1000 genomes]
rs353564	0.86[ASN][1000 genomes]
rs353569	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs353575	0.88[ASN][1000 genomes]
rs353576	0.88[ASN][1000 genomes]
rs353578	0.88[ASN][1000 genomes]
rs395563	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs449670	0.88[ASN][1000 genomes]
rs497210	0.88[ASN][1000 genomes]
rs598725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60760313	0.80[ASN][1000 genomes]
rs627819	0.88[ASN][1000 genomes]
rs837512	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to Vitamin E supplementation	22437554	GWAS catalog

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35139400-35156400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:35147400-35160200	Weak transcription	Gastric	stomach
3	chr11:35149000-35158600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:35152400-35160000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:35152800-35159800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:35153000-35159800	Weak transcription	Primary B cells from cord blood	blood
7	chr11:35153400-35159000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:35153800-35155800	Weak transcription	Fetal Lung	lung
9	chr11:35153800-35156800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:35153800-35158400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:35153800-35159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:35154000-35156400	Weak transcription	GM12878-XiMat	blood
13	chr11:35154000-35158800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:35154000-35159000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:35154200-35156000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:35154200-35158800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:35154200-35159000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:35154200-35159000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:35154400-35158400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:35154400-35158800	Weak transcription	Primary T cells from cord blood	blood
21	chr11:35154400-35158800	Weak transcription	Dnd41	blood
22	chr11:35154400-35160200	Weak transcription	Thymus	Thymus
23	chr11:35154600-35159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:35154600-35160000	Weak transcription	Fetal Thymus	thymus
25	chr11:35155400-35156600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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