Variant report

Variant	rs7145713
Chromosome Location	chr14:81914981-81914982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
2	chr14:81892286..81893996-chr14:81913738..81916101,2	K562	blood:
3	chr14:81685291..81688139-chr14:81913963..81916118,2	K562	blood:
4	chr14:81779689..81782584-chr14:81913814..81916244,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11846919	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12588572	0.86[CHB][hapmap]
rs17111790	0.86[CHB][hapmap]
rs2371599	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2371602	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3844534	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4290414	0.86[CHB][hapmap]
rs6574653	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6574655	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7160907	0.82[CHB][hapmap]
rs8022070	0.86[CHB][hapmap];0.82[JPT][hapmap]

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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81910000-81919000	Weak transcription	K562	blood
2	chr14:81910600-81915400	Weak transcription	Aorta	Aorta
3	chr14:81912200-81915000	Enhancers	Fetal Muscle Leg	muscle
4	chr14:81912400-81915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:81912600-81916800	Enhancers	Psoas Muscle	Psoas
6	chr14:81912600-81917000	Enhancers	NHDF-Ad	bronchial
7	chr14:81912800-81915400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:81912800-81915400	Weak transcription	HSMMtube	muscle
9	chr14:81913200-81915200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:81913200-81915600	Weak transcription	Fetal Lung	lung
11	chr14:81913600-81915000	Weak transcription	HepG2	liver
12	chr14:81913600-81915200	Weak transcription	Adipose Nuclei	Adipose
13	chr14:81913800-81915200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:81913800-81915200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:81913800-81915400	Weak transcription	HSMM	muscle
16	chr14:81914000-81915000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr14:81914600-81915400	Enhancers	Brain Germinal Matrix	brain
18	chr14:81914600-81915400	Enhancers	Fetal Brain Female	brain
19	chr14:81914800-81915000	Enhancers	Brain Anterior Caudate	brain
20	chr14:81914800-81915400	Enhancers	Brain Angular Gyrus	brain
21	chr14:81914800-81915400	Enhancers	Brain Hippocampus Middle	brain
22	chr14:81914800-81916200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:81914800-81916800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:81914800-81916800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr14:81914800-81917000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:81914800-81917000	Enhancers	Placenta	Placenta

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