Variant report

Variant	rs17729239
Chromosome Location	chr19:51899747-51899748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
2	chr19:51897676..51900576-chr19:51905401..51907897,3	K562	blood:
3	chr19:51896400..51903695-chr19:51903717..51912186,11	K562	blood:
4	chr19:51829447..51832200-chr19:51897791..51899840,5	K562	blood:
5	chr19:51897857..51900350-chr19:51919819..51922051,2	K562	blood:
6	chr19:51847346..51848930-chr19:51897301..51899895,2	K562	blood:
7	chr19:51867772..51875803-chr19:51892381..51899756,21	K562	blood:
8	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:
9	chr19:51889349..51894566-chr19:51895156..51899826,6	K562	blood:
10	chr19:51895771..51899587-chr19:51899591..51905302,6	K562	blood:
11	chr19:51889722..51893942-chr19:51894149..51900029,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186806	Chromatin interaction
ENSG00000268144	Chromatin interaction
ENSG00000105370	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000262874	Chromatin interaction
ENSG00000267905	Chromatin interaction
ENSG00000142512	Chromatin interaction
ENSG00000105374	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000267984	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268520	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10419880	0.89[CEU][hapmap];0.92[TSI][hapmap]
rs17802282	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843608	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107170	0.97[EUR][1000 genomes];0.80[ASN][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv978836	chr19:51899668-51906513	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51897800-51899800	Flanking Active TSS	GM12878-XiMat	blood
2	chr19:51898200-51900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:51898400-51903000	Weak transcription	Fetal Brain Male	brain
4	chr19:51898400-51904000	Weak transcription	Fetal Brain Female	brain
5	chr19:51898600-51899800	Flanking Active TSS	K562	blood
6	chr19:51898600-51901000	Weak transcription	HepG2	liver
7	chr19:51898600-51903200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:51898800-51900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:51898800-51903800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:51898800-51905400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:51899000-51899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:51899000-51900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:51899000-51901200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:51899000-51901800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:51899000-51903000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:51899000-51903000	Weak transcription	Fetal Thymus	thymus
17	chr19:51899000-51904200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:51899000-51904800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:51899000-51904800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:51899000-51904800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:51899000-51905000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:51899000-51905200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:51899000-51906600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:51899000-51911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:51899200-51899800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr19:51899400-51901000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:51899400-51903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:51899400-51903800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr19:51899600-51901000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:51899600-51903600	Weak transcription	Monocytes-CD14+_RO01746	blood

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