Variant report

Variant	rs2371462
Chromosome Location	chr14:81420774-81420775
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	MXI1	chr14:81420672-81421674	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81413969..81417033-chr14:81418099..81421076,3	K562	blood:

Variant related genes	Relation type
TSHR	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10136404	0.88[CEU][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10145099	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1016507	0.81[CEU][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs1025253	0.84[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1035144	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11159479	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11623416	0.84[CEU][hapmap];0.84[JPT][hapmap];0.94[EUR][1000 genomes]
rs11627019	0.81[EUR][1000 genomes]
rs12431821	0.80[CEU][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs12432357	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12434564	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12888082	0.81[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs12892825	0.83[EUR][1000 genomes]
rs12895801	0.84[CEU][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes]
rs1458993	0.81[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17111270	0.84[CEU][hapmap];0.80[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs172920	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17542615	0.81[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17613911	0.82[MEX][hapmap]
rs17614081	0.84[JPT][hapmap]
rs179246	0.86[ASN][1000 genomes]
rs179247	0.84[ASN][1000 genomes]
rs179248	0.83[ASN][1000 genomes]
rs179262	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs179263	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1797670	0.82[EUR][1000 genomes]
rs2044738	0.80[EUR][1000 genomes]
rs2114703	0.83[EUR][1000 genomes]
rs2162548	0.83[EUR][1000 genomes]
rs2215981	0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs2217174	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2217176	0.84[CEU][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs228110	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228111	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228118	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228120	0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228121	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228125	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2284726	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2371416	0.82[JPT][hapmap]
rs2371457	0.84[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2556601	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2556605	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2590480	0.82[MEX][hapmap]
rs2888046	0.83[EUR][1000 genomes]
rs35540104	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3742721	0.83[EUR][1000 genomes]
rs3742722	0.83[EUR][1000 genomes]
rs3783948	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3783949	0.92[CHD][hapmap]
rs3783950	0.92[CHD][hapmap]
rs4411444	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4523859	0.81[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs4899782	0.84[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4899783	0.93[EUR][1000 genomes]
rs4903948	0.84[CEU][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4903954	0.83[EUR][1000 genomes]
rs56389234	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6574613	0.84[CEU][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6574617	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67065081	0.94[EUR][1000 genomes]
rs7143407	0.82[EUR][1000 genomes]
rs7143744	0.82[EUR][1000 genomes]
rs7148618	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs7150858	0.87[MEX][hapmap]
rs7153979	0.81[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7154132	0.84[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7154373	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs728444	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs759916	0.87[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs759917	0.84[EUR][1000 genomes]
rs8003784	0.82[EUR][1000 genomes]
rs8005883	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8006507	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8009120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8009260	0.84[EUR][1000 genomes]
rs8016601	0.86[CEU][hapmap]
rs8021137	0.81[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8022411	0.84[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2371462	C14orf145	cis	cerebellum	SCAN
rs2371462	SMPD3	trans	parietal	SCAN
rs2371462	C14orf145	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81408800-81421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:81412600-81421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:81415000-81421000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:81415600-81421000	Weak transcription	NHEK	skin
5	chr14:81415600-81421200	Weak transcription	Gastric	stomach
6	chr14:81415600-81421400	Weak transcription	Placenta	Placenta
7	chr14:81415800-81421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:81415800-81421000	Weak transcription	Thymus	Thymus
9	chr14:81415800-81421000	Weak transcription	HMEC	breast
10	chr14:81416800-81421000	Weak transcription	Fetal Thymus	thymus
11	chr14:81420000-81420800	Enhancers	Dnd41	blood
12	chr14:81420600-81421000	Enhancers	NHDF-Ad	bronchial

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