Variant report

Variant	rs16952894
Chromosome Location	chr18:8116369-8116370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16952902	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17397183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397841	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17475401	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1942956	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4456614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534675	0.92[ASN][1000 genomes]
rs538985	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550672	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs565798	0.89[CHB][hapmap]
rs641156	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs644183	0.89[CHB][hapmap]
rs6506549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs663105	0.89[CHB][hapmap]
rs7236194	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7241382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73387768	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8082936	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8083862	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8095101	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8099028	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099174	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8092800-8122200	Weak transcription	Thymus	Thymus
3	chr18:8096600-8125000	Weak transcription	Pancreas	Pancrea
4	chr18:8102800-8126600	Weak transcription	Psoas Muscle	Psoas
5	chr18:8103400-8116400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8103400-8116600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:8103400-8123800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:8103600-8116400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:8103600-8117800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:8103600-8122200	Weak transcription	Aorta	Aorta
11	chr18:8103600-8124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:8103600-8136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
14	chr18:8104200-8132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:8110000-8123000	Weak transcription	Fetal Intestine Small	intestine
16	chr18:8110400-8116800	Weak transcription	Adipose Nuclei	Adipose
17	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
18	chr18:8111200-8137200	Weak transcription	Left Ventricle	heart
19	chr18:8113600-8125000	Weak transcription	Gastric	stomach
20	chr18:8114600-8116400	Weak transcription	Placenta	Placenta
21	chr18:8115200-8117200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:8115200-8117200	Enhancers	NHEK	skin
23	chr18:8115200-8117400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:8115200-8117800	Enhancers	HMEC	breast
25	chr18:8115400-8117800	Enhancers	Hela-S3	cervix
26	chr18:8115800-8116400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr18:8116000-8116600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:8116000-8117000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr18:8116000-8117200	Enhancers	NH-A	brain
30	chr18:8116000-8117400	Enhancers	NHDF-Ad	bronchial
31	chr18:8116000-8117400	Enhancers	Osteobl	bone
32	chr18:8116000-8117800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:8116200-8116400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:8116200-8116600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:8116200-8116600	Flanking Active TSS	A549	lung
36	chr18:8116200-8117200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr18:8116200-8117400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:8116200-8117400	Enhancers	Liver	Liver
39	chr18:8116200-8117800	Enhancers	NHLF	lung

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