Variant report

Variant	rs73129180
Chromosome Location	chr20:40725224-40725225
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1884035	0.92[EUR][1000 genomes]
rs2223912	0.93[EUR][1000 genomes]
rs2866988	0.83[EUR][1000 genomes]
rs3084007	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35745973	0.82[EUR][1000 genomes]
rs41278134	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41278136	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41278142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45500198	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58841508	1.00[EUR][1000 genomes]
rs6016670	0.93[EUR][1000 genomes]
rs6016681	1.00[EUR][1000 genomes]
rs6016682	1.00[EUR][1000 genomes]
rs6029963	0.95[EUR][1000 genomes]
rs6029964	0.91[EUR][1000 genomes]
rs6029965	0.91[EUR][1000 genomes]
rs6029966	1.00[EUR][1000 genomes]
rs6093551	0.80[EUR][1000 genomes]
rs6102616	0.83[EUR][1000 genomes]
rs6102641	0.91[EUR][1000 genomes]
rs6513754	0.83[EUR][1000 genomes]
rs6513765	1.00[EUR][1000 genomes]
rs73113854	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73113856	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73113859	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73113864	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73113865	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73113870	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73113872	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73114432	1.00[AFR][1000 genomes]
rs73115457	0.93[EUR][1000 genomes]
rs73115458	0.93[EUR][1000 genomes]
rs73115478	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73115479	0.93[EUR][1000 genomes]
rs73115480	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73117860	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73117872	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73117886	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73118098	1.00[AFR][1000 genomes]
rs73119803	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119807	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119811	0.92[EUR][1000 genomes]
rs73119815	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119820	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119823	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119845	1.00[AFR][1000 genomes]
rs73119847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120035	1.00[AFR][1000 genomes]
rs73122781	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73122800	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73124713	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73124714	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73124722	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73124730	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73129112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129173	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129186	1.00[EUR][1000 genomes]
rs73129195	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73129199	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73131104	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73131109	1.00[AFR][1000 genomes]
rs73131116	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73131124	1.00[AFR][1000 genomes]
rs73131125	1.00[AFR][1000 genomes]
rs8120362	0.83[EUR][1000 genomes]
rs8124637	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	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40712200-40725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:40714600-40730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:40715800-40757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:40722400-40726000	Weak transcription	Brain Germinal Matrix	brain
5	chr20:40722400-40728400	Weak transcription	Pancreas	Pancrea
6	chr20:40722800-40747200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr20:40723000-40728600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr20:40723200-40741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:40724800-40726800	Weak transcription	Fetal Brain Female	brain
10	chr20:40725200-40730800	Enhancers	Fetal Intestine Small	intestine
11	chr20:40725200-40731200	Enhancers	Fetal Intestine Large	intestine

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