Variant report

Variant	rs4804021
Chromosome Location	chr19:47560230-47560231
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	chr19:47559138..47562031-chr19:47586588..47588278,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10420139	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083859	0.88[ASN][1000 genomes]
rs11670435	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12971970	0.84[ASN][1000 genomes]
rs1862499	0.82[EUR][1000 genomes]
rs4804020	0.82[ASN][1000 genomes]
rs55706574	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58658028	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59753865	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60118491	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61599759	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917664	chr19:47482403-48177720	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
2	nsv912192	chr19:47499031-47562123	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv912193	chr19:47519134-47562123	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv912194	chr19:47540859-47562123	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv912195	chr19:47540859-47569003	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3365822	chr19:47558062-47560860	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:47551800-47561000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:47552200-47568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:47552800-47567000	Weak transcription	NHLF	lung
4	chr19:47553000-47567000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:47553000-47567800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:47556400-47567000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:47558000-47582800	Weak transcription	Right Atrium	heart
8	chr19:47558800-47560600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:47559600-47560800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:47559600-47561800	Enhancers	Hela-S3	cervix
11	chr19:47559600-47561800	Enhancers	HepG2	liver
12	chr19:47559600-47563200	Enhancers	Fetal Intestine Large	intestine
13	chr19:47559600-47564000	Enhancers	Placenta	Placenta
14	chr19:47559600-47568000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:47559800-47561000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:47559800-47561000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:47559800-47561200	Enhancers	NH-A	brain
18	chr19:47559800-47561400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:47559800-47561400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:47560000-47561000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr19:47560000-47561800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:47560000-47565400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:47560000-47566000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:47560200-47561200	Enhancers	Fetal Thymus	thymus
25	chr19:47560200-47561800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:47560200-47567000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:47560200-47584400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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