Variant report

Variant	rs4899300
Chromosome Location	chr14:70010212-70010213
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	chr14:70009624..70012138-chr14:70013181..70015316,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1885401	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2025132	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2025133	0.81[ASN][1000 genomes]
rs4899301	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899305	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4902730	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902733	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4902734	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902738	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902739	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573893	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573894	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7140978	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7142221	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7143193	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147881	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7494244	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs927387	0.83[ASN][1000 genomes]
rs927389	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs927390	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9323528	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9788506	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510642	chr14:69983293-70030335	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv564968	chr14:70000399-70021562	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv564969	chr14:70000399-70022351	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv564970	chr14:70000399-70040161	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv94	chr14:70002365-70030415	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1334	chr14:70002365-70032641	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036936	chr14:70004606-70022932	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv564971	chr14:70007215-70022404	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 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	chr14:70002400-70014600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:70007000-70014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70008200-70011200	Weak transcription	Adipose Nuclei	Adipose
4	chr14:70008800-70010600	Weak transcription	Osteobl	bone
5	chr14:70009000-70010600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:70009400-70011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:70009400-70011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70009600-70011000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:70009600-70011400	Enhancers	Hela-S3	cervix
10	chr14:70009600-70011400	Enhancers	HMEC	breast
11	chr14:70009800-70010400	Enhancers	A549	lung
12	chr14:70009800-70011000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr14:70009800-70011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:70009800-70011400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:70009800-70011600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:70010000-70011000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:70010000-70011000	Enhancers	NHEK	skin
18	chr14:70010000-70011400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:70010000-70011400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:70010000-70011400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:70010200-70010400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:70010200-70010400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:70010200-70010600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr14:70010200-70011000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr14:70010200-70011000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:70010200-70011200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr14:70010200-70011200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:70010200-70011200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:70010200-70011400	Enhancers	NHLF	lung
30	chr14:70010200-70014000	Weak transcription	Fetal Brain Male	brain

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