Variant report

Variant	rs73450950
Chromosome Location	chr6:56222159-56222160
allele	G/T
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:11)

rs_ID	r²[population]
rs11962322	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967161	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12110836	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887806	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59729561	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60152592	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61123577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73745620	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7769615	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56218400-56229200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:56219400-56223400	Enhancers	Fetal Lung	lung
3	chr6:56220600-56222800	Enhancers	Rectal Smooth Muscle	rectum
4	chr6:56220600-56223400	Enhancers	Colon Smooth Muscle	Colon
5	chr6:56220800-56222600	Enhancers	Stomach Smooth Muscle	stomach
6	chr6:56220800-56223000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:56220800-56223000	Enhancers	NHDF-Ad	bronchial
8	chr6:56220800-56223200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr6:56220800-56223400	Enhancers	Osteobl	bone
10	chr6:56221000-56222600	Enhancers	Fetal Heart	heart
11	chr6:56221000-56223200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:56221000-56223200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:56221000-56223200	Enhancers	NH-A	brain
14	chr6:56221000-56223400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:56221000-56223400	Enhancers	HSMM	muscle
16	chr6:56221000-56224200	Enhancers	HMEC	breast
17	chr6:56221000-56224200	Enhancers	NHEK	skin
18	chr6:56221200-56223000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:56221200-56223200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:56221200-56223200	Enhancers	HSMMtube	muscle
21	chr6:56221200-56224600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:56221400-56222600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:56221400-56223200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:56221400-56224400	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:56221400-56224600	Weak transcription	Brain Substantia Nigra	brain
26	chr6:56221400-56224800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:56221400-56231000	Weak transcription	Right Ventricle	heart
28	chr6:56221600-56222200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:56221600-56222400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:56221600-56224000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:56221600-56233200	Weak transcription	NHLF	lung
32	chr6:56221800-56222200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:56221800-56224200	Weak transcription	HUVEC	blood vessel
34	chr6:56221800-56229800	Weak transcription	Fetal Stomach	stomach

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