Variant report

Variant	rs41285482
Chromosome Location	chr14:69347755-69347756
allele	C/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	chr14:69346369-69348617	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:69347455-69347755	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:69347561-69348329	A549	lung:	n/a	n/a
4	POLR2A	chr14:69347621-69348165	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ACTN1	TF binding region

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

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

rs_ID	r²[population]
rs1274949	0.83[ASN][1000 genomes]
rs17106429	0.97[ASN][1000 genomes]
rs181475	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2093009	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2093010	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2273419	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs370535	0.97[ASN][1000 genomes]
rs372177	0.83[ASN][1000 genomes]
rs372896	0.83[ASN][1000 genomes]
rs397282	0.83[ASN][1000 genomes]
rs7145390	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	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

No data

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	chr14:69330200-69348200	Weak transcription	K562	blood
3	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:69334000-69349600	Weak transcription	Fetal Kidney	kidney
5	chr14:69334000-69350800	Strong transcription	NH-A	brain
6	chr14:69336200-69349600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:69336200-69350800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:69336200-69351200	Strong transcription	HSMM	muscle
9	chr14:69336400-69350800	Strong transcription	NHLF	lung
10	chr14:69336400-69350800	Strong transcription	Osteobl	bone
11	chr14:69336400-69358800	Strong transcription	HSMMtube	muscle
12	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
14	chr14:69336600-69348000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:69336600-69350600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr14:69336600-69351000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:69336600-69351000	Strong transcription	Adipose Nuclei	Adipose
18	chr14:69336600-69358600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:69336800-69360400	Weak transcription	Right Atrium	heart
20	chr14:69337400-69348000	Weak transcription	Brain Substantia Nigra	brain
21	chr14:69337400-69350800	Weak transcription	Psoas Muscle	Psoas
22	chr14:69337400-69351400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:69337400-69353000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
25	chr14:69337600-69351200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:69337600-69353000	Strong transcription	Aorta	Aorta
27	chr14:69337600-69361200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr14:69337800-69350600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:69337800-69350600	Strong transcription	A549	lung
30	chr14:69337800-69350800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:69337800-69350800	Strong transcription	HMEC	breast
32	chr14:69337800-69352600	Strong transcription	Fetal Lung	lung
33	chr14:69337800-69353000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:69337800-69353000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:69337800-69379200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:69337800-69380600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:69338000-69347800	Strong transcription	HUVEC	blood vessel
38	chr14:69338000-69352600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:69338000-69352600	Strong transcription	Brain Anterior Caudate	brain
40	chr14:69338000-69353000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:69338000-69353000	Strong transcription	Gastric	stomach
42	chr14:69338000-69353200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:69338000-69355800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:69338000-69365400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr14:69338000-69366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:69338000-69378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:69338200-69350800	Strong transcription	Left Ventricle	heart
48	chr14:69338200-69351400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:69338200-69352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:69338200-69353000	Strong transcription	Spleen	Spleen

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