Variant report

Variant	rs10416520
Chromosome Location	chr19:19371032-19371033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19370401..19373352-chr19:19382111..19385169,3	K562	blood:
2	chr19:19370728..19372562-chr19:19430099..19431742,2	K562	blood:

Variant related genes	Relation type
ENSG00000129933	Chromatin interaction
ENSG00000267629	Chromatin interaction
ENSG00000213996	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10402729	1.00[AMR][1000 genomes]
rs10407305	0.85[AFR][1000 genomes]
rs10410340	0.87[AMR][1000 genomes]
rs10413995	1.00[AMR][1000 genomes]
rs10414307	0.85[AMR][1000 genomes]
rs10414990	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417330	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422620	0.87[AMR][1000 genomes]
rs10423659	0.87[AMR][1000 genomes]
rs10425084	1.00[AMR][1000 genomes]
rs12327663	0.87[AMR][1000 genomes]
rs13344498	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16996031	0.87[AMR][1000 genomes]
rs28437425	0.87[AMR][1000 genomes]
rs28857503	0.87[AMR][1000 genomes]
rs4563151	0.87[AMR][1000 genomes]
rs55877107	0.87[AMR][1000 genomes]
rs55937418	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57002012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58409825	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59049499	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr19:19361600-19372200	Weak transcription	Brain Angular Gyrus	brain
2	chr19:19363400-19371600	Weak transcription	Brain Germinal Matrix	brain
3	chr19:19367600-19371600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:19367600-19371600	Weak transcription	Fetal Brain Female	brain
5	chr19:19367800-19371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:19367800-19371800	Weak transcription	Fetal Brain Male	brain
7	chr19:19368200-19371600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:19368400-19371600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:19369600-19371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:19369600-19371600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:19370400-19371400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:19370400-19371600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:19370800-19371400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr19:19371000-19371600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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