Variant report

Variant	rs9954240
Chromosome Location	chr18:28880741-28880742
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
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]
rs9966227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3422577	chr18:28862003-28881811	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28877000-28883600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28877600-28880800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:28879800-28881000	Weak transcription	HUVEC	blood vessel
4	chr18:28880000-28882400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr18:28880200-28881200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr18:28880200-28882000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:28880200-28882400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr18:28880400-28881200	Enhancers	Stomach Mucosa	stomach
9	chr18:28880400-28882000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:28880400-28882000	Enhancers	Fetal Muscle Leg	muscle
11	chr18:28880400-28882600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:28880400-28882600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr18:28880400-28884600	Enhancers	HMEC	breast
14	chr18:28880600-28880800	Enhancers	Placenta	Placenta
15	chr18:28880600-28881400	Enhancers	Fetal Kidney	kidney
16	chr18:28880600-28881600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:28880600-28881600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr18:28880600-28881600	Enhancers	Fetal Intestine Small	intestine
19	chr18:28880600-28882000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:28880600-28882000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr18:28880600-28882000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:28880600-28882000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr18:28880600-28882400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr18:28880600-28884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:28880600-28884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:28880600-28885200	Enhancers	NHEK	skin

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