Variant report

Variant	rs41437744
Chromosome Location	chr14:55908305-55908306
allele	C/G
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	JUND	chr14:55908077-55908315	HepG2	liver:	n/a	chr14:55908208-55908220 chr14:55908208-55908219 chr14:55908209-55908219 chr14:55908210-55908219 chr14:55908209-55908219 chr14:55908209-55908219 chr14:55908209-55908219
2	FOS	chr14:55908046-55908368	MCF10A-Er-Src	breast:	n/a	chr14:55908208-55908220 chr14:55908209-55908219 chr14:55908210-55908219 chr14:55908209-55908219 chr14:55908209-55908219 chr14:55908209-55908219
3	FOS	chr14:55908040-55908346	MCF10A-Er-Src	breast:	n/a	chr14:55908208-55908220 chr14:55908209-55908219 chr14:55908210-55908219 chr14:55908209-55908219 chr14:55908209-55908219 chr14:55908209-55908219
4	FOS	chr14:55908069-55908342	MCF10A-Er-Src	breast:	n/a	chr14:55908208-55908220 chr14:55908209-55908219 chr14:55908210-55908219 chr14:55908209-55908219 chr14:55908209-55908219 chr14:55908209-55908219

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55908301-55908351	HCPEpiC	choroid plexus:	n/a
2	chr14:55908301-55908351	BJ	skin:	n/a
3	chr14:55908301-55908351	GM06990	blood:	n/a
4	chr14:55908301-55908351	GM12878	blood:	n/a
5	chr14:55908301-55908351	NT2-D1	testis:	n/a
6	chr14:55908301-55908351	GM12891	blood:	n/a
7	chr14:55908301-55908351	HAEpiC	amniotic membrane:	n/a
8	chr14:55908301-55908351	BE2_C	brain:	n/a
9	chr14:55908301-55908351	ovcar-3	ovarian:	n/a
10	chr14:55908301-55908351	HepG2	liver:	n/a
11	chr14:55908301-55908351	GM19239	blood:	n/a
12	chr14:55908301-55908351	NHDF-neo	bronchial:	n/a
13	chr14:55908301-55908351	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:55908301-55908351	RPTEC	kidney:	n/a
15	chr14:55908301-55908351	Hepatocyte	liver:	n/a
16	chr14:55908301-55908351	HL-60	blood:	n/a
17	chr14:55908301-55908351	NHBE	bronchial:	n/a
18	chr14:55908301-55908351	PrEC	prostate:	n/a
19	chr14:55908301-55908351	HEEpiC	esophagus:	n/a
20	chr14:55908301-55908351	SKMC	muscle:	n/a
21	chr14:55908301-55908351	Caco-2	colon:	n/a
22	chr14:55908301-55908351	SK-N-SH	brain:	n/a
23	chr14:55908301-55908351	HNPCEpiC	eye:	n/a
24	chr14:55908301-55908351	MCF10A-Er-Src	breast:	n/a
25	chr14:55908301-55908351	IMR90	lung:	fetal
26	chr14:55908301-55908351	AG04449	skin:	fetal
27	chr14:55908301-55908351	ECC-1	luminal epithelium:	n/a
28	chr14:55908301-55908351	NB4	blood:	n/a
29	chr14:55908301-55908351	HMEC	breast:	n/a
30	chr14:55908301-55908351	AoSMC	blood vessel:	n/a
31	chr14:55908301-55908351	HRPEpiC	eye:	n/a
32	chr14:55908301-55908351	NH-A	brain:	n/a
33	chr14:55908301-55908351	PFSK-1	brain:	n/a
34	chr14:55908301-55908351	SK-N-SH_RA	brain:	n/a
35	chr14:55908301-55908351	CMK	blood:	n/a
36	chr14:55908301-55908351	SK-N-MC	brain:	n/a
37	chr14:55908301-55908351	HCT-116	colon:	n/a
38	chr14:55908301-55908351	HCF	heart:	n/a
39	chr14:55908301-55908351	HRCEpiC	kidney:	n/a
40	chr14:55908301-55908351	GM12892	blood:	n/a
41	chr14:55908301-55908351	U87	brain:	n/a
42	chr14:55908301-55908351	HCM	heart:	n/a
43	chr14:55908301-55908351	LNCaP	prostate:	n/a
44	chr14:55908301-55908351	SAEC	small airway:	n/a
45	chr14:55908301-55908351	MCF-7	breast:	n/a
46	chr14:55908301-55908351	HIPEpiC	eye:	n/a
47	chr14:55908301-55908351	K562	blood:	n/a
48	chr14:55908301-55908351	AG04450	lung:	fetal
49	chr14:55908301-55908351	AG09319	gingival:	n/a
50	chr14:55908301-55908351	HEK293	kidney:	embryo

Variant related genes	Relation type
TBPL2	TF binding region
TBPL2	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10483641	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483646	1.00[CHD][hapmap]
rs17128484	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128488	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17672950	0.89[CEU][hapmap];1.00[CHD][hapmap]
rs17673930	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[AFR][1000 genomes]
rs17675052	0.89[CEU][hapmap];1.00[AFR][1000 genomes]
rs17740413	0.89[CEU][hapmap]
rs17741681	0.88[CEU][hapmap]
rs17741825	0.89[CEU][hapmap];1.00[AFR][1000 genomes]
rs17742621	1.00[CHD][hapmap]
rs17743484	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17743595	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744929	1.00[ASN][1000 genomes]
rs17745017	1.00[ASN][1000 genomes]
rs1959443	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984988	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35070799	1.00[AFR][1000 genomes]
rs41299189	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299199	1.00[AFR][1000 genomes]
rs45612333	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59169706	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713473	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713474	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713475	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013528	0.81[CEU][hapmap]
rs8015252	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323280	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
3	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs41437744	FBXO34	cis	cerebellum	SCAN
rs41437744	FBXO34	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55906400-55913400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55907200-55912800	Weak transcription	Fetal Heart	heart

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