Variant report

Variant	rs59157740
Chromosome Location	chr19:47560825-47560826
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	chr19:47559138..47562031-chr19:47586588..47588278,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11881256	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883303	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57350091	1.00[ASN][1000 genomes]
rs71353947	1.00[ASN][1000 genomes]
rs73566537	0.80[AMR][1000 genomes]
rs73566538	0.80[AMR][1000 genomes];1.00[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:37 , 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	chr19:47559600-47561800	Enhancers	Hela-S3	cervix
9	chr19:47559600-47561800	Enhancers	HepG2	liver
10	chr19:47559600-47563200	Enhancers	Fetal Intestine Large	intestine
11	chr19:47559600-47564000	Enhancers	Placenta	Placenta
12	chr19:47559600-47568000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:47559800-47561000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:47559800-47561000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:47559800-47561200	Enhancers	NH-A	brain
16	chr19:47559800-47561400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:47559800-47561400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:47560000-47561000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr19:47560000-47561800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:47560000-47565400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr19:47560000-47566000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:47560200-47561200	Enhancers	Fetal Thymus	thymus
23	chr19:47560200-47561800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:47560200-47567000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:47560200-47584400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:47560400-47561000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:47560400-47561200	Enhancers	Fetal Intestine Small	intestine
28	chr19:47560400-47561400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:47560400-47562000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:47560600-47561000	Enhancers	K562	blood
31	chr19:47560600-47562400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:47560600-47562400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr19:47560800-47561000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:47560800-47561000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr19:47560800-47561200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:47560800-47561200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:47560800-47565600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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