Variant report

Variant	rs11873504
Chromosome Location	chr18:8344520-8344521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11873699	0.80[CEU][hapmap];0.91[CHB][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11875935	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11876724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11876786	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11877672	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12456630	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12954518	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12966511	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1542451	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17490458	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17490807	0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17490828	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246146	0.92[CEU][hapmap]
rs2279074	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279075	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35431779	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36032451	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56137612	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs589107	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs603504	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs62085046	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs685144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7226445	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7244164	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs754140	0.84[CEU][hapmap]
rs8087223	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[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:44 , 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	chr18:8340200-8365600	Weak transcription	Psoas Muscle	Psoas
5	chr18:8341600-8348800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:8342000-8346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:8342000-8346000	Weak transcription	Ovary	ovary
8	chr18:8342000-8346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:8342000-8346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr18:8342000-8348200	Weak transcription	Fetal Intestine Large	intestine
11	chr18:8342000-8359200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:8342000-8362400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr18:8342200-8346000	Weak transcription	Fetal Stomach	stomach
14	chr18:8342200-8346000	Weak transcription	Lung	lung
15	chr18:8342200-8346200	Weak transcription	Fetal Intestine Small	intestine
16	chr18:8342200-8348200	Weak transcription	Pancreas	Pancrea
17	chr18:8342200-8349000	Weak transcription	Hela-S3	cervix
18	chr18:8342200-8350200	Weak transcription	Fetal Muscle Leg	muscle
19	chr18:8342200-8354600	Weak transcription	Gastric	stomach
20	chr18:8342200-8354600	Weak transcription	Left Ventricle	heart
21	chr18:8342200-8355200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:8342200-8359600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:8342200-8366800	Weak transcription	Adipose Nuclei	Adipose
24	chr18:8342200-8367400	Weak transcription	Aorta	Aorta
25	chr18:8342400-8344800	Weak transcription	NHLF	lung
26	chr18:8342400-8346600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:8342400-8346600	Weak transcription	NHDF-Ad	bronchial
28	chr18:8342400-8347000	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:8342600-8345800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:8342600-8348000	Weak transcription	Osteobl	bone
31	chr18:8342600-8349400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:8342600-8349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr18:8342600-8350400	Weak transcription	HSMMtube	muscle
34	chr18:8342600-8366400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:8342800-8357600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:8343000-8351800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:8343600-8346000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:8343800-8346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:8343800-8349800	Weak transcription	HepG2	liver
40	chr18:8344000-8346600	Weak transcription	Fetal Lung	lung
41	chr18:8344000-8348000	Weak transcription	Fetal Kidney	kidney
42	chr18:8344000-8353800	Weak transcription	Right Ventricle	heart
43	chr18:8344200-8356600	Weak transcription	A549	lung
44	chr18:8344200-8367000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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