Variant report

Variant	rs630778
Chromosome Location	chr18:8097133-8097134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1297389	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2230601	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3865362	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs478396	0.86[JPT][hapmap]
rs490065	0.81[JPT][hapmap]
rs502843	0.81[JPT][hapmap]
rs523280	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs567595	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs629391	0.81[JPT][hapmap]
rs630815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646575	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7240054	0.89[CEU][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8065600-8101600	Weak transcription	Aorta	Aorta
3	chr18:8067400-8110200	Weak transcription	Right Ventricle	heart
4	chr18:8068000-8100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr18:8068400-8101600	Weak transcription	Fetal Stomach	stomach
6	chr18:8068400-8102400	Weak transcription	Fetal Thymus	thymus
7	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:8069000-8102200	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:8069000-8102400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr18:8069000-8102400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr18:8069400-8103400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr18:8069600-8102400	Weak transcription	Brain Anterior Caudate	brain
13	chr18:8070000-8097600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:8074200-8102400	Weak transcription	Psoas Muscle	Psoas
15	chr18:8084400-8102800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:8084600-8102600	Weak transcription	NH-A	brain
17	chr18:8084600-8108000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:8085200-8102800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:8085400-8101800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:8086200-8102400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:8086400-8102400	Weak transcription	Adipose Nuclei	Adipose
22	chr18:8086400-8102600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:8088400-8102000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:8088600-8103000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:8088800-8113400	Weak transcription	A549	lung
26	chr18:8089800-8102400	Weak transcription	Fetal Kidney	kidney
27	chr18:8091400-8102600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:8091600-8102600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:8092800-8102200	Weak transcription	Gastric	stomach
30	chr18:8092800-8122200	Weak transcription	Thymus	Thymus
31	chr18:8093400-8099400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:8093400-8099600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:8093400-8101600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:8093400-8104800	Weak transcription	Ovary	ovary
35	chr18:8094000-8102400	Weak transcription	Fetal Lung	lung
36	chr18:8096200-8100000	Weak transcription	Lung	lung
37	chr18:8096400-8099800	Weak transcription	Left Ventricle	heart
38	chr18:8096600-8097800	Enhancers	Fetal Heart	heart
39	chr18:8096600-8125000	Weak transcription	Pancreas	Pancrea

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