Variant report

Variant	rs640500
Chromosome Location	chr11:74125100-74125101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74107679..74110666-chr11:74122853..74125761,3	MCF-7	breast:
2	chr11:74107862..74112061-chr11:74124805..74130360,12	MCF-7	breast:
3	chr11:74122725..74125748-chr11:74128034..74129993,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254631	Chromatin interaction
ENSG00000264402	Chromatin interaction
ENSG00000165434	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10898989	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12281178	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2509535	0.82[ASN][1000 genomes]
rs3132849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs515589	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs520701	0.81[ASN][1000 genomes]
rs520837	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs537637	0.92[ASN][1000 genomes]
rs538805	0.82[ASN][1000 genomes]
rs544747	0.81[ASN][1000 genomes]
rs563722	0.83[ASN][1000 genomes]
rs612040	0.81[ASN][1000 genomes]
rs615593	0.81[ASN][1000 genomes]
rs618993	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs621109	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs621857	0.82[ASN][1000 genomes]
rs629134	0.82[ASN][1000 genomes]
rs633568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs642033	0.81[ASN][1000 genomes]
rs642500	0.82[ASN][1000 genomes]
rs645184	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs670722	0.82[ASN][1000 genomes]
rs685684	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs694638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
7	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1041154	chr11:74114801-74177909	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74118600-74127000	Weak transcription	Pancreas	Pancrea
2	chr11:74121400-74128600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:74124200-74127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:74124200-74128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:74124200-74128400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:74124200-74128400	Weak transcription	Hela-S3	cervix
7	chr11:74124200-74128600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:74124200-74128600	Weak transcription	HSMM	muscle
9	chr11:74124400-74126800	Weak transcription	NHEK	skin
10	chr11:74124400-74127000	Weak transcription	Thymus	Thymus
11	chr11:74124400-74127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:74124400-74128800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:74124600-74126800	Weak transcription	Fetal Thymus	thymus
14	chr11:74124600-74127000	Weak transcription	A549	lung
15	chr11:74124600-74127200	Weak transcription	HMEC	breast
16	chr11:74124600-74128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:74124800-74126800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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