Variant report

Variant	rs16953319
Chromosome Location	chr18:8342638-8342639
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	chr18:8336321..8338584-chr18:8341680..8343766,3	K562	blood:

Variant related genes	Relation type
ENSG00000268046	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11872468	0.80[ASN][1000 genomes]
rs11875736	0.80[ASN][1000 genomes]
rs16953244	0.83[EUR][1000 genomes]
rs16953299	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16953309	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16953329	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16953340	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16953349	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2446498	0.80[ASN][1000 genomes]
rs2446503	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2509543	0.80[ASN][1000 genomes]
rs2509546	0.95[EUR][1000 genomes]
rs35933807	0.80[ASN][1000 genomes]
rs4798629	0.80[ASN][1000 genomes]
rs57165119	0.80[ASN][1000 genomes]
rs57486401	0.80[ASN][1000 genomes]
rs58102861	0.80[ASN][1000 genomes]
rs592535	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59726215	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598149	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs603371	0.83[EUR][1000 genomes]
rs603476	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs603810	0.92[EUR][1000 genomes]
rs606954	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs611709	0.92[EUR][1000 genomes]
rs613113	0.92[EUR][1000 genomes]
rs62085039	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62085040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62085041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62085047	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62085048	0.98[EUR][1000 genomes]
rs62089873	0.85[EUR][1000 genomes]
rs62089874	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62089877	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62089899	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs635416	0.84[EUR][1000 genomes]
rs652740	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs653652	0.80[ASN][1000 genomes]
rs656568	0.84[EUR][1000 genomes]
rs665525	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs668262	0.80[ASN][1000 genomes]
rs669168	0.80[ASN][1000 genomes]
rs685266	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs694406	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
2	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:8339400-8344200	Enhancers	Fetal Heart	heart
5	chr18:8339600-8344000	Enhancers	Fetal Lung	lung
6	chr18:8340200-8344200	Weak transcription	Brain Anterior Caudate	brain
7	chr18:8340200-8365600	Weak transcription	Psoas Muscle	Psoas
8	chr18:8340800-8343000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:8340800-8344200	Enhancers	Stomach Mucosa	stomach
10	chr18:8341000-8343000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:8341000-8343000	Enhancers	Liver	Liver
12	chr18:8341200-8343800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:8341400-8342800	Enhancers	Fetal Kidney	kidney
14	chr18:8341400-8343600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:8341600-8342800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:8341600-8348800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:8342000-8343400	Weak transcription	Right Atrium	heart
18	chr18:8342000-8346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:8342000-8346000	Weak transcription	Ovary	ovary
20	chr18:8342000-8346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:8342000-8346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr18:8342000-8348200	Weak transcription	Fetal Intestine Large	intestine
23	chr18:8342000-8359200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:8342000-8362400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:8342200-8342800	Flanking Active TSS	A549	lung
26	chr18:8342200-8343400	Weak transcription	Right Ventricle	heart
27	chr18:8342200-8343800	Enhancers	HepG2	liver
28	chr18:8342200-8346000	Weak transcription	Fetal Stomach	stomach
29	chr18:8342200-8346000	Weak transcription	Lung	lung
30	chr18:8342200-8346200	Weak transcription	Fetal Intestine Small	intestine
31	chr18:8342200-8348200	Weak transcription	Pancreas	Pancrea
32	chr18:8342200-8349000	Weak transcription	Hela-S3	cervix
33	chr18:8342200-8350200	Weak transcription	Fetal Muscle Leg	muscle
34	chr18:8342200-8354600	Weak transcription	Gastric	stomach
35	chr18:8342200-8354600	Weak transcription	Left Ventricle	heart
36	chr18:8342200-8355200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:8342200-8359600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:8342200-8366800	Weak transcription	Adipose Nuclei	Adipose
39	chr18:8342200-8367400	Weak transcription	Aorta	Aorta
40	chr18:8342400-8344800	Weak transcription	NHLF	lung
41	chr18:8342400-8346600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:8342400-8346600	Weak transcription	NHDF-Ad	bronchial
43	chr18:8342400-8347000	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:8342600-8343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:8342600-8345800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:8342600-8348000	Weak transcription	Osteobl	bone
47	chr18:8342600-8349400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:8342600-8349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr18:8342600-8350400	Weak transcription	HSMMtube	muscle
50	chr18:8342600-8366400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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