Variant report

Variant	rs73891622
Chromosome Location	chr21:17977574-17977575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17961458..17963589-chr21:17976639..17978962,2	MCF-7	breast:
2	chr21:17976261..17979732-chr21:17980310..17982604,3	K562	blood:

Variant related genes	Relation type
ENSG00000207863	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10084583	1.00[EUR][1000 genomes]
rs10470097	1.00[EUR][1000 genomes]
rs11910639	1.00[EUR][1000 genomes]
rs28750139	1.00[EUR][1000 genomes]
rs55725525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56083400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59398000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59613864	1.00[EUR][1000 genomes]
rs61006502	1.00[AMR][1000 genomes]
rs61356708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62222249	1.00[AFR][1000 genomes]
rs73369752	1.00[EUR][1000 genomes]
rs73891587	1.00[EUR][1000 genomes]
rs73891590	1.00[EUR][1000 genomes]
rs73891608	1.00[EUR][1000 genomes]
rs73891609	1.00[EUR][1000 genomes]
rs73891610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73891612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891615	1.00[EUR][1000 genomes]
rs73891616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73891621	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73891630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73891632	1.00[EUR][1000 genomes]
rs73893766	1.00[EUR][1000 genomes]
rs8130645	1.00[AMR][1000 genomes]
rs9980238	1.00[EUR][1000 genomes]
rs9982363	1.00[EUR][1000 genomes]
rs9983563	1.00[EUR][1000 genomes]
rs9983994	1.00[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	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-17978000	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:17961200-17978000	Weak transcription	Left Ventricle	heart
3	chr21:17961200-17978000	Weak transcription	Ovary	ovary
4	chr21:17961200-17979200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
7	chr21:17961400-17977600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:17961400-17983200	Weak transcription	HSMMtube	muscle
9	chr21:17961400-17984000	Weak transcription	Osteobl	bone
10	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix
11	chr21:17963200-17977800	Weak transcription	Adipose Nuclei	Adipose
12	chr21:17963600-17981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:17965000-17977600	Weak transcription	Brain Anterior Caudate	brain
14	chr21:17969000-17977800	Weak transcription	Fetal Kidney	kidney
15	chr21:17969000-18005200	Weak transcription	Liver	Liver
16	chr21:17969200-17980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:17969400-17979800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
19	chr21:17975800-17979200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:17976000-17979200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr21:17976000-18001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:17976600-17977600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:17976800-17977800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr21:17976800-17978000	Enhancers	Fetal Lung	lung
25	chr21:17977000-17977600	Enhancers	Fetal Brain Female	brain
26	chr21:17977000-17977800	Enhancers	Brain Cingulate Gyrus	brain
27	chr21:17977200-17977600	Enhancers	Fetal Brain Male	brain
28	chr21:17977200-17977800	Enhancers	Brain Angular Gyrus	brain
29	chr21:17977200-17977800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr21:17977200-17979000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:17977400-17977800	Enhancers	Brain Germinal Matrix	brain

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