Variant report

Variant	rs7493450
Chromosome Location	chr14:105921682-105921683
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105921420-105922381	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105904276..105906787-chr14:105920503..105922191,2	MCF-7	breast:
2	chr14:105917619..105920064-chr14:105921005..105923478,3	K562	blood:

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000182979	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10138891	0.93[AMR][1000 genomes]
rs11160845	0.93[AMR][1000 genomes]
rs12323571	0.93[AMR][1000 genomes]
rs12891645	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13707	0.86[AMR][1000 genomes]
rs3936032	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4074000	0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs4074001	0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4983407	0.85[YRI][hapmap]
rs4983412	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983414	0.89[YRI][hapmap];0.86[AMR][1000 genomes]
rs4983418	0.86[AMR][1000 genomes]
rs4983419	0.85[AMR][1000 genomes]
rs4983422	0.93[AMR][1000 genomes]
rs4983423	0.93[AMR][1000 genomes]
rs4983624	0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs6576105	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6576106	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7140395	0.93[AMR][1000 genomes]
rs7149807	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7158977	0.93[AMR][1000 genomes]
rs73362069	0.93[AMR][1000 genomes]
rs7492842	0.90[YRI][hapmap]
rs7492892	1.00[AMR][1000 genomes]
rs7492915	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7493964	0.86[YRI][hapmap]
rs8005552	0.96[YRI][hapmap];0.93[AMR][1000 genomes]
rs8012089	0.93[AMR][1000 genomes]
rs9743822	0.96[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897600-105927200	Weak transcription	NH-A	brain
4	chr14:105897800-105940000	Weak transcription	K562	blood
5	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
7	chr14:105902800-105925200	Strong transcription	Dnd41	blood
8	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:105906800-105931000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:105907000-105921800	Weak transcription	HMEC	breast
13	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
14	chr14:105909600-105923000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:105909800-105926800	Weak transcription	HUVEC	blood vessel
16	chr14:105910600-105925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:105911000-105925600	Strong transcription	Fetal Brain Female	brain
18	chr14:105911200-105925600	Strong transcription	Thymus	Thymus
19	chr14:105912000-105937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:105914200-105925400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:105914600-105925200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:105914800-105925200	Strong transcription	Fetal Thymus	thymus
23	chr14:105915000-105925600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:105915000-105926800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:105915400-105924800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:105915400-105925200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:105915400-105925200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:105915400-105925200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:105915400-105925400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:105915400-105925400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:105915400-105931000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:105915400-105935000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:105915400-105936800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr14:105915600-105923600	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr14:105915600-105925200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:105915600-105925200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:105915600-105925200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:105915600-105925400	Strong transcription	Brain Germinal Matrix	brain
39	chr14:105915600-105925600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:105915600-105937000	Strong transcription	Fetal Stomach	stomach
41	chr14:105915800-105925000	Strong transcription	Gastric	stomach
42	chr14:105915800-105925000	Strong transcription	NHLF	lung
43	chr14:105915800-105925400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:105916000-105923200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:105916000-105924000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:105916000-105924200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr14:105916000-105924600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr14:105916000-105924800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:105916000-105931000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:105916200-105922000	Strong transcription	Fetal Intestine Large	intestine

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