Variant report

Variant	rs73392384
Chromosome Location	chr18:9187167-9187168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9186304..9188662-chr18:9189391..9191819,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs35260255	1.00[AFR][1000 genomes]
rs58963626	1.00[AFR][1000 genomes]
rs59151602	0.90[AFR][1000 genomes]
rs59649868	1.00[AFR][1000 genomes]
rs60491862	1.00[AFR][1000 genomes]
rs73388185	1.00[AFR][1000 genomes]
rs73388186	1.00[AFR][1000 genomes]
rs73390132	1.00[AFR][1000 genomes]
rs73390200	1.00[AFR][1000 genomes]
rs73392341	1.00[AFR][1000 genomes]
rs73392354	1.00[AFR][1000 genomes]
rs73392363	1.00[AFR][1000 genomes]
rs73392390	1.00[AFR][1000 genomes]
rs73394114	0.83[AFR][1000 genomes]
rs73394148	1.00[AFR][1000 genomes]
rs73394190	0.91[AFR][1000 genomes]
rs73396113	1.00[AFR][1000 genomes]
rs73396129	0.90[AFR][1000 genomes]
rs73396164	0.81[AFR][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats 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 target site	37 gene(s)	inside rSNPs	diseases
3	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:9162200-9187800	Weak transcription	Thymus	Thymus
3	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
6	chr18:9173000-9208400	Weak transcription	NHLF	lung
7	chr18:9174200-9191800	Weak transcription	Fetal Stomach	stomach
8	chr18:9174200-9192000	Weak transcription	HMEC	breast
9	chr18:9174400-9191800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:9174600-9188000	Weak transcription	Ovary	ovary
11	chr18:9174600-9188000	Weak transcription	HSMMtube	muscle
12	chr18:9174600-9188200	Weak transcription	Fetal Thymus	thymus
13	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
14	chr18:9174800-9188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr18:9174800-9191800	Weak transcription	Lung	lung
16	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
17	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
18	chr18:9176600-9195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:9177000-9188000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:9177400-9188400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:9177800-9188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr18:9178000-9188000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
24	chr18:9179800-9188800	Weak transcription	Left Ventricle	heart
25	chr18:9180200-9214200	Weak transcription	A549	lung
26	chr18:9180800-9188000	Weak transcription	Brain Anterior Caudate	brain
27	chr18:9180800-9188800	Weak transcription	Aorta	Aorta
28	chr18:9181000-9194800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:9181000-9194800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:9181200-9199800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr18:9181600-9188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:9181800-9191600	Weak transcription	NHEK	skin
34	chr18:9182200-9188000	Weak transcription	Psoas Muscle	Psoas
35	chr18:9182600-9194600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr18:9182600-9198600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
38	chr18:9183600-9188000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr18:9184000-9188000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:9184000-9194800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr18:9184800-9187800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr18:9184800-9188200	Weak transcription	Liver	Liver
45	chr18:9184800-9200800	Weak transcription	Gastric	stomach
46	chr18:9185000-9189400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr18:9185000-9192000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:9185200-9187400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr18:9185200-9187800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:9185200-9188000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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