Variant report

Variant	rs73719818
Chromosome Location	chr6:4578229-4578230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11962071	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11962707	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11963606	0.95[ASN][1000 genomes]
rs17138481	0.97[ASN][1000 genomes]
rs17138491	0.95[EUR][1000 genomes]
rs17138531	0.98[ASN][1000 genomes]
rs2016920	0.97[ASN][1000 genomes]
rs382186	0.82[ASN][1000 genomes]
rs420580	0.82[ASN][1000 genomes]
rs55707514	0.90[EUR][1000 genomes]
rs55716151	0.85[EUR][1000 genomes]
rs58440707	1.00[ASN][1000 genomes]
rs58901337	0.98[ASN][1000 genomes]
rs59123449	0.97[ASN][1000 genomes]
rs59668969	0.97[ASN][1000 genomes]
rs61626939	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61693763	0.91[ASN][1000 genomes]
rs73359389	0.97[ASN][1000 genomes]
rs73717395	0.95[EUR][1000 genomes]
rs73717396	0.95[EUR][1000 genomes]
rs73717398	0.95[EUR][1000 genomes]
rs73717400	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73717401	0.95[EUR][1000 genomes]
rs73719810	0.95[EUR][1000 genomes]
rs73719819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73719820	0.95[EUR][1000 genomes]
rs73719822	0.97[ASN][1000 genomes]
rs7747007	0.82[ASN][1000 genomes]
rs7751465	0.95[ASN][1000 genomes]
rs7755263	0.97[ASN][1000 genomes]
rs7764506	0.97[ASN][1000 genomes]
rs7768719	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4568400-4581800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:4572600-4581800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:4574000-4578400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:4574600-4582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:4574800-4581800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:4575800-4578600	Enhancers	NHLF	lung
7	chr6:4577000-4578600	Enhancers	Fetal Heart	heart
8	chr6:4577200-4578400	Enhancers	Fetal Stomach	stomach
9	chr6:4577400-4578400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:4577400-4578400	Enhancers	NH-A	brain
11	chr6:4577400-4578400	Enhancers	NHDF-Ad	bronchial
12	chr6:4577600-4578400	Enhancers	Brain Cingulate Gyrus	brain
13	chr6:4577800-4578400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:4577800-4578400	Enhancers	Fetal Lung	lung
15	chr6:4577800-4578400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:4577800-4578400	Enhancers	Stomach Smooth Muscle	stomach
17	chr6:4578000-4578400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:4578000-4578400	Enhancers	Brain Hippocampus Middle	brain
19	chr6:4578200-4578400	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr6:4578200-4578600	Enhancers	Brain Angular Gyrus	brain
21	chr6:4578200-4580000	Weak transcription	Placenta	Placenta
22	chr6:4578200-4581400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:4578200-4581400	Weak transcription	Osteobl	bone
24	chr6:4578200-4581600	Weak transcription	Adipose Nuclei	Adipose
25	chr6:4578200-4581800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:4578200-4582200	Weak transcription	A549	lung

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