Variant report

Variant	rs72864618
Chromosome Location	chr1:10891718-10891719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10882954..10889403-chr1:10891369..10897064,9	MCF-7	breast:
2	chr1:10890948..10893091-chr1:10894513..10897214,2	MCF-7	breast:
3	chr1:10876866..10879184-chr1:10889466..10891905,3	K562	blood:
4	chr1:10854264..10855791-chr1:10891105..10892781,2	MCF-7	breast:
5	chr1:10889433..10892912-chr1:10893269..10895457,3	MCF-7	breast:
6	chr1:10862898..10866073-chr1:10890287..10893383,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11806245	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58177718	0.85[EUR][1000 genomes]
rs58349752	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613156	0.97[ASN][1000 genomes]
rs672270	0.83[ASN][1000 genomes]
rs7514293	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv871772	chr1:10832322-10894724	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv870589	chr1:10840905-10901994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv871617	chr1:10858746-10935232	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv871155	chr1:10858746-10998509	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv1825837	chr1:10887923-11093741	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10883600-10902800	Weak transcription	Right Atrium	heart
2	chr1:10885000-10895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10889000-10895800	Weak transcription	Pancreas	Pancrea
4	chr1:10889600-10894200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:10890400-10891800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:10890400-10892000	Enhancers	NHEK	skin
7	chr1:10890400-10892200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:10890400-10892200	Enhancers	Esophagus	oesophagus
9	chr1:10890400-10893200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:10890400-10893400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:10890600-10891800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:10890800-10891800	Enhancers	Hela-S3	cervix
13	chr1:10890800-10893200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:10890800-10893400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:10890800-10893400	Enhancers	HMEC	breast
16	chr1:10890800-10894600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:10891000-10895200	Weak transcription	Fetal Heart	heart
18	chr1:10891200-10891800	Enhancers	Stomach Mucosa	stomach
19	chr1:10891400-10892000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:10891600-10894400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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