Variant report

Variant	rs2630274
Chromosome Location	chr14:81146757-81146758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10132819	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139136	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470640	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371334	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619669	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619670	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630273	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903933	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903934	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156519	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8014754	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1039554	chr14:81113167-81156335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1051964	chr14:81113167-81156847	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81132600-81148400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:81144200-81150200	ZNF genes & repeats	Dnd41	blood
3	chr14:81144600-81148800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:81145200-81147800	Weak transcription	NHDF-Ad	bronchial
5	chr14:81145600-81146800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:81145800-81147400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:81145800-81148400	ZNF genes & repeats	Fetal Thymus	thymus
8	chr14:81146000-81147200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:81146200-81147000	ZNF genes & repeats	Liver	Liver
10	chr14:81146200-81147200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:81146200-81147200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:81146200-81147400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:81146200-81149600	ZNF genes & repeats	Thymus	Thymus
14	chr14:81146400-81146800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:81146400-81147000	ZNF genes & repeats	Pancreas	Pancrea
16	chr14:81146400-81147200	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr14:81146400-81147200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr14:81146400-81147400	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr14:81146400-81147400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:81146400-81148000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr14:81146600-81147000	ZNF genes & repeats	Aorta	Aorta
22	chr14:81146600-81147200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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