Variant report

Variant	rs73129199
Chromosome Location	chr20:40729049-40729050
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	chr20:40727514..40729131-chr20:40732995..40734633,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1884035	0.87[EUR][1000 genomes]
rs2223912	0.89[EUR][1000 genomes]
rs3084007	0.89[EUR][1000 genomes]
rs41278134	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41278136	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41278142	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45500198	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58841508	0.95[EUR][1000 genomes]
rs6016670	0.89[EUR][1000 genomes]
rs6016681	0.95[EUR][1000 genomes]
rs6016682	0.95[EUR][1000 genomes]
rs6029963	0.91[EUR][1000 genomes]
rs6029964	0.91[EUR][1000 genomes]
rs6029965	0.91[EUR][1000 genomes]
rs6029966	0.95[EUR][1000 genomes]
rs6102641	0.87[EUR][1000 genomes]
rs6513765	0.95[EUR][1000 genomes]
rs73113854	0.80[EUR][1000 genomes]
rs73113856	0.80[EUR][1000 genomes]
rs73113859	0.80[EUR][1000 genomes]
rs73113864	0.80[EUR][1000 genomes]
rs73113865	0.80[EUR][1000 genomes]
rs73113870	0.87[EUR][1000 genomes]
rs73113872	0.85[EUR][1000 genomes]
rs73115457	0.89[EUR][1000 genomes]
rs73115458	0.89[EUR][1000 genomes]
rs73115478	0.89[EUR][1000 genomes]
rs73115479	0.89[EUR][1000 genomes]
rs73115480	0.89[EUR][1000 genomes]
rs73117860	0.84[EUR][1000 genomes]
rs73117872	0.89[EUR][1000 genomes]
rs73117886	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73119803	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73119807	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73119811	0.87[EUR][1000 genomes]
rs73119815	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73119820	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73119823	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73119847	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73119850	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129112	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129138	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129147	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129161	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129169	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129170	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129173	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73129176	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129180	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129186	0.95[EUR][1000 genomes]
rs73129195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73131104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73131116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8124637	0.95[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	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40714600-40730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr20:40715800-40757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:40722800-40747200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr20:40723200-40741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:40725200-40730800	Enhancers	Fetal Intestine Small	intestine
6	chr20:40725200-40731200	Enhancers	Fetal Intestine Large	intestine
7	chr20:40727000-40729600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:40728400-40731400	Enhancers	Pancreas	Pancrea
9	chr20:40728600-40729400	Enhancers	Duodenum Mucosa	Duodenum
10	chr20:40728600-40730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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