Variant report

Variant	rs728458
Chromosome Location	chr14:81666016-81666017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81664368..81667115-chr14:81668581..81672072,3	K562	blood:
2	chr14:81655881..81668737-chr14:81683092..81689639,25	K562	blood:
3	chr14:81665997..81674006-chr14:81683759..81689461,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000221303	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12437268	1.00[YRI][hapmap]
rs17094177	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17111607	0.83[AFR][1000 genomes]
rs17111611	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17111627	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs3815952	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
2	chr14:81638600-81670200	Weak transcription	Psoas Muscle	Psoas
3	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:81644600-81666400	Weak transcription	Stomach Mucosa	stomach
6	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
7	chr14:81644800-81675600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:81646200-81674800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:81647200-81674400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:81647400-81674600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr14:81648000-81671400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:81648800-81667800	Weak transcription	Fetal Heart	heart
13	chr14:81649200-81677800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:81650600-81676600	Strong transcription	Placenta	Placenta
15	chr14:81651000-81685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:81652600-81685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:81654200-81683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:81656000-81673200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:81656600-81682800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:81656600-81683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:81656600-81683400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:81657000-81670400	Strong transcription	Fetal Intestine Large	intestine
23	chr14:81657000-81674000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:81657200-81672800	Strong transcription	Fetal Lung	lung
25	chr14:81657200-81673200	Strong transcription	HSMM	muscle
26	chr14:81659200-81666400	Strong transcription	Dnd41	blood
27	chr14:81659200-81667600	Weak transcription	K562	blood
28	chr14:81659400-81676600	Weak transcription	NHLF	lung
29	chr14:81660600-81673000	Strong transcription	Primary B cells from cord blood	blood
30	chr14:81660800-81666600	Strong transcription	Fetal Thymus	thymus
31	chr14:81660800-81674600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:81660800-81674600	Weak transcription	Pancreas	Pancrea
33	chr14:81660800-81685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:81661000-81667400	Weak transcription	HMEC	breast
35	chr14:81661000-81685400	Weak transcription	Aorta	Aorta
36	chr14:81661200-81667200	Weak transcription	Colonic Mucosa	Colon
37	chr14:81662200-81667800	Weak transcription	NH-A	brain
38	chr14:81662400-81674200	Weak transcription	Fetal Intestine Small	intestine
39	chr14:81662600-81666200	Weak transcription	Primary T cells from cord blood	blood
40	chr14:81662600-81666400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:81662600-81666400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:81662600-81667800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:81662600-81667800	Weak transcription	Thymus	Thymus
44	chr14:81662600-81668000	Weak transcription	Ovary	ovary
45	chr14:81662600-81668200	Weak transcription	Left Ventricle	heart
46	chr14:81662600-81668600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:81662600-81669000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:81662600-81669000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:81662600-81672400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:81662600-81672400	Weak transcription	Spleen	Spleen

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