Variant report

Variant	rs2273419
Chromosome Location	chr14:69350761-69350762
allele	G/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	chr14:69350675-69351366	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr14:69350404-69351685	IMR90	lung:	n/a	n/a
3	FOSL2	chr14:69350740-69352016	A549	lung:	n/a	chr14:69351575-69351586 chr14:69351122-69351134
4	POLR2A	chr14:69350757-69351246	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69344263..69347194-chr14:69349604..69352915,4	MCF-7	breast:
2	chr14:69347920..69352793-chr14:69354599..69357859,5	MCF-7	breast:

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000258967	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10130940	0.85[JPT][hapmap]
rs10136833	0.85[JPT][hapmap]
rs10139706	0.85[JPT][hapmap]
rs10142141	0.85[JPT][hapmap]
rs10147437	0.85[JPT][hapmap]
rs10147838	0.85[JPT][hapmap]
rs10149281	0.85[JPT][hapmap]
rs10151706	0.85[JPT][hapmap]
rs12101054	1.00[JPT][hapmap]
rs12434957	0.85[JPT][hapmap]
rs1475034	1.00[CHD][hapmap]
rs17106429	0.93[ASN][1000 genomes]
rs181475	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs194718	1.00[JPT][hapmap]
rs2093009	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2093010	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs370535	0.93[ASN][1000 genomes]
rs41285482	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7145390	0.90[ASN][1000 genomes]
rs743127	1.00[JPT][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	nsv902074	chr14:69339691-69360631	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2273419	FNTB	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
2	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:69334000-69350800	Strong transcription	NH-A	brain
4	chr14:69336200-69350800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:69336200-69351200	Strong transcription	HSMM	muscle
6	chr14:69336400-69350800	Strong transcription	NHLF	lung
7	chr14:69336400-69350800	Strong transcription	Osteobl	bone
8	chr14:69336400-69358800	Strong transcription	HSMMtube	muscle
9	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
11	chr14:69336600-69351000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:69336600-69351000	Strong transcription	Adipose Nuclei	Adipose
13	chr14:69336600-69358600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:69336800-69360400	Weak transcription	Right Atrium	heart
15	chr14:69337400-69350800	Weak transcription	Psoas Muscle	Psoas
16	chr14:69337400-69351400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:69337400-69353000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
19	chr14:69337600-69351200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:69337600-69353000	Strong transcription	Aorta	Aorta
21	chr14:69337600-69361200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr14:69337800-69350800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:69337800-69350800	Strong transcription	HMEC	breast
24	chr14:69337800-69352600	Strong transcription	Fetal Lung	lung
25	chr14:69337800-69353000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:69337800-69353000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:69337800-69379200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:69337800-69380600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:69338000-69352600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:69338000-69352600	Strong transcription	Brain Anterior Caudate	brain
31	chr14:69338000-69353000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:69338000-69353000	Strong transcription	Gastric	stomach
33	chr14:69338000-69353200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:69338000-69355800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:69338000-69365400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr14:69338000-69366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:69338000-69378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:69338200-69350800	Strong transcription	Left Ventricle	heart
39	chr14:69338200-69351400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:69338200-69352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:69338200-69353000	Strong transcription	Spleen	Spleen
42	chr14:69338200-69354000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:69338200-69361400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:69338200-69361600	Strong transcription	Ovary	ovary
45	chr14:69338200-69361800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:69338200-69362200	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:69338200-69362800	Strong transcription	Placenta	Placenta
48	chr14:69338200-69365000	Strong transcription	Pancreas	Pancrea
49	chr14:69338200-69365600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr14:69338200-69375000	Strong transcription	Placenta Amnion	Placenta Amnion

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