Variant report

Variant	rs9675415
Chromosome Location	chr18:11690019-11690020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1863122	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2035194	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2035195	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57892223	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61670374	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6505670	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8085488	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8087266	0.85[AMR][1000 genomes]
rs8090096	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8096345	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8098596	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8099016	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8099179	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8099342	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9303742	0.89[AMR][1000 genomes];0.86[EUR][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	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv518207	chr18:11670845-11695676	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv516128	chr18:11683431-11695676	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11688600-11690200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr18:11688600-11690200	Active TSS	Rectal Smooth Muscle	rectum
3	chr18:11688600-11690400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:11688600-11690400	Active TSS	A549	lung
5	chr18:11688600-11690600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr18:11688600-11690600	Active TSS	HMEC	breast
7	chr18:11688800-11690200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:11688800-11690200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr18:11688800-11690200	Active TSS	Brain Substantia Nigra	brain
10	chr18:11688800-11690200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr18:11688800-11690400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:11688800-11690400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:11688800-11690400	Active TSS	Aorta	Aorta
19	chr18:11688800-11690400	Enhancers	Fetal Heart	heart
20	chr18:11688800-11690400	Active TSS	Right Atrium	heart
21	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr18:11688800-11690600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr18:11688800-11690600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:11688800-11690600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr18:11689000-11690200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:11689000-11690200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr18:11689000-11690200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr18:11689000-11690200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr18:11689000-11690200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:11689000-11690200	Active TSS	Brain Angular Gyrus	brain
31	chr18:11689000-11690200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr18:11689000-11690200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr18:11689000-11690200	Active TSS	Gastric	stomach
34	chr18:11689000-11690200	Bivalent/Poised TSS	HepG2	liver
35	chr18:11689000-11690200	Active TSS	NHEK	skin
36	chr18:11689000-11690400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr18:11689000-11690400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:11689000-11690400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr18:11689000-11690400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:11689000-11690400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr18:11689000-11690400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
42	chr18:11689000-11690400	Active TSS	Esophagus	oesophagus
43	chr18:11689000-11690400	Active TSS	Ovary	ovary
44	chr18:11689000-11690400	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr18:11689000-11690600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr18:11689000-11690600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:11689000-11690600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr18:11689000-11690600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr18:11689000-11690600	Active TSS	Hela-S3	cervix
50	chr18:11689200-11690200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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