Variant report

Variant	rs73131124
Chromosome Location	chr20:40741718-40741719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs3084007	1.00[AFR][1000 genomes]
rs41278134	1.00[AFR][1000 genomes]
rs41278136	1.00[AFR][1000 genomes]
rs41278142	1.00[AFR][1000 genomes]
rs45500198	1.00[AFR][1000 genomes]
rs6029981	0.96[EUR][1000 genomes]
rs73113854	1.00[AFR][1000 genomes]
rs73113856	1.00[AFR][1000 genomes]
rs73113859	1.00[AFR][1000 genomes]
rs73113864	1.00[AFR][1000 genomes]
rs73113865	1.00[AFR][1000 genomes]
rs73113870	1.00[AFR][1000 genomes]
rs73113872	1.00[AFR][1000 genomes]
rs73114432	1.00[AFR][1000 genomes]
rs73115478	1.00[AFR][1000 genomes]
rs73115480	1.00[AFR][1000 genomes]
rs73117860	1.00[AFR][1000 genomes]
rs73117872	1.00[AFR][1000 genomes]
rs73117886	1.00[AFR][1000 genomes]
rs73118098	1.00[AFR][1000 genomes]
rs73119803	1.00[AFR][1000 genomes]
rs73119815	1.00[AFR][1000 genomes]
rs73119820	1.00[AFR][1000 genomes]
rs73119823	1.00[AFR][1000 genomes]
rs73119845	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73119847	1.00[AFR][1000 genomes]
rs73119850	1.00[AFR][1000 genomes]
rs73120035	1.00[AFR][1000 genomes]
rs73122781	1.00[AFR][1000 genomes]
rs73122800	1.00[AFR][1000 genomes]
rs73124713	1.00[AFR][1000 genomes]
rs73124714	1.00[AFR][1000 genomes]
rs73124722	1.00[AFR][1000 genomes]
rs73124730	1.00[AFR][1000 genomes]
rs73129112	1.00[AFR][1000 genomes]
rs73129138	1.00[AFR][1000 genomes]
rs73129147	1.00[AFR][1000 genomes]
rs73129170	1.00[AFR][1000 genomes]
rs73129176	1.00[AFR][1000 genomes]
rs73129180	1.00[AFR][1000 genomes]
rs73131104	1.00[AFR][1000 genomes]
rs73131109	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73131116	1.00[AFR][1000 genomes]
rs73131125	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40715800-40757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40722800-40747200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr20:40731200-40742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr20:40733800-40742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr20:40737600-40747800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr20:40741000-40742400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:40741200-40742000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:40741200-40744200	Weak transcription	Brain Germinal Matrix	brain
9	chr20:40741400-40741800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr20:40741400-40742000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr20:40741400-40742200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:40741400-40742200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr20:40741400-40742200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr20:40741600-40742200	Enhancers	H1 Cell Line	embryonic stem cell

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