Variant report

Variant	rs10468654
Chromosome Location	chr18:8124682-8124683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10048238	0.80[EUR][1000 genomes]
rs10163540	0.82[EUR][1000 genomes]
rs10468775	0.89[EUR][1000 genomes]
rs12955074	0.82[EUR][1000 genomes]
rs12961323	0.82[EUR][1000 genomes]
rs28502621	0.89[EUR][1000 genomes]
rs28646008	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34886811	0.84[EUR][1000 genomes]
rs61496201	0.80[EUR][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:45 , 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	chr18:8096600-8125000	Weak transcription	Pancreas	Pancrea
3	chr18:8102800-8126600	Weak transcription	Psoas Muscle	Psoas
4	chr18:8103600-8124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:8103600-8136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
7	chr18:8104200-8132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:8111200-8137200	Weak transcription	Left Ventricle	heart
10	chr18:8113600-8125000	Weak transcription	Gastric	stomach
11	chr18:8117200-8124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:8117200-8132600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:8117200-8137800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:8117400-8153200	Weak transcription	Liver	Liver
15	chr18:8117600-8124800	Weak transcription	Right Atrium	heart
16	chr18:8119200-8138200	Weak transcription	Ovary	ovary
17	chr18:8120000-8126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
19	chr18:8121400-8125800	Enhancers	Osteobl	bone
20	chr18:8121400-8126800	Enhancers	HMEC	breast
21	chr18:8121800-8125800	Enhancers	HSMM	muscle
22	chr18:8122400-8124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:8122400-8124800	Weak transcription	NHLF	lung
24	chr18:8122400-8125800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:8122400-8127000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
27	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
28	chr18:8122600-8124800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr18:8122600-8125000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:8122600-8125000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:8122600-8126800	Enhancers	A549	lung
32	chr18:8123000-8124800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:8123000-8124800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:8123000-8124800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr18:8123200-8124800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:8123800-8125800	Enhancers	HSMMtube	muscle
37	chr18:8123800-8126000	Enhancers	NHEK	skin
38	chr18:8124000-8126200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:8124400-8125200	Enhancers	Adipose Nuclei	Adipose
40	chr18:8124400-8125800	Enhancers	NH-A	brain
41	chr18:8124400-8126200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:8124600-8125400	Enhancers	HepG2	liver
43	chr18:8124600-8125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:8124600-8125800	Enhancers	Hela-S3	cervix
45	chr18:8124600-8125800	Enhancers	NHDF-Ad	bronchial

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