Variant report

Variant	rs9966227
Chromosome Location	chr18:28882375-28882376
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28873035..28874705-chr18:28881375..28882997,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12104067	1.00[AMR][1000 genomes]
rs56032720	0.92[AFR][1000 genomes]
rs73408320	0.96[AFR][1000 genomes]
rs73411052	1.00[AMR][1000 genomes]
rs73411062	1.00[AMR][1000 genomes]
rs9946032	0.92[AFR][1000 genomes]
rs9954240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28877000-28883600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28880000-28882400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:28880200-28882400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr18:28880400-28882600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr18:28880400-28882600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr18:28880400-28884600	Enhancers	HMEC	breast
7	chr18:28880600-28882400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:28880600-28884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:28880600-28884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:28880600-28885200	Enhancers	NHEK	skin
11	chr18:28880800-28883600	Weak transcription	Placenta	Placenta
12	chr18:28881000-28883000	Enhancers	Fetal Intestine Large	intestine
13	chr18:28881600-28882600	Weak transcription	A549	lung
14	chr18:28881600-28883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:28881600-28883400	Weak transcription	Fetal Intestine Small	intestine
16	chr18:28881800-28882400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr18:28882000-28883000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:28882000-28883200	Weak transcription	Fetal Muscle Leg	muscle
19	chr18:28882000-28883600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:28882000-28883600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:28882000-28883600	Weak transcription	Left Ventricle	heart
22	chr18:28882000-28883600	Weak transcription	NH-A	brain
23	chr18:28882000-28884800	Enhancers	HUVEC	blood vessel

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