Variant report

Variant	rs10048238
Chromosome Location	chr18:8158168-8158169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10163540	0.90[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10468654	0.80[EUR][1000 genomes]
rs10468775	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12955074	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12961323	0.90[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25417	1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502621	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28646008	0.85[EUR][1000 genomes]
rs34886811	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61496201	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62089553	1.00[ASN][1000 genomes]
rs6506551	0.90[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241418	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9955279	1.00[JPT][hapmap]

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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
2	chr18:8139000-8158800	Weak transcription	Pancreas	Pancrea
3	chr18:8141600-8159200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr18:8142600-8160200	Weak transcription	Psoas Muscle	Psoas
5	chr18:8142600-8162400	Weak transcription	Right Ventricle	heart
6	chr18:8146200-8162600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:8147400-8159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:8152000-8167200	Weak transcription	Gastric	stomach
9	chr18:8154200-8161000	Weak transcription	NH-A	brain
10	chr18:8154200-8162600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:8154600-8158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:8154600-8158600	Weak transcription	Left Ventricle	heart
13	chr18:8154600-8160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:8154600-8163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:8154800-8158400	Weak transcription	HSMMtube	muscle
16	chr18:8154800-8158600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:8154800-8160200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:8154800-8161800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:8155200-8162600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:8156000-8158600	Weak transcription	Fetal Lung	lung
21	chr18:8156600-8161600	Weak transcription	HepG2	liver
22	chr18:8157000-8158800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:8157200-8158200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:8157200-8158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:8157200-8158600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:8157200-8158800	Weak transcription	Fetal Kidney	kidney
27	chr18:8157400-8159000	ZNF genes & repeats	Aorta	Aorta
28	chr18:8157400-8159000	Strong transcription	A549	lung
29	chr18:8157600-8159000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:8157600-8167000	Weak transcription	Brain Anterior Caudate	brain
31	chr18:8157800-8158200	Strong transcription	Adipose Nuclei	Adipose
32	chr18:8157800-8158800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
33	chr18:8157800-8159000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:8157800-8160800	Weak transcription	Brain Angular Gyrus	brain
35	chr18:8158000-8159800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:8158000-8165400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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