Variant report

Variant	rs8005643
Chromosome Location	chr14:81133489-81133490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10134782	0.86[JPT][hapmap]
rs10220315	0.86[JPT][hapmap]
rs10498550	1.00[YRI][hapmap]
rs12586869	1.00[YRI][hapmap]
rs12587844	1.00[YRI][hapmap]
rs1992972	0.82[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2371333	0.81[MKK][hapmap];1.00[YRI][hapmap]
rs2596107	1.00[YRI][hapmap]
rs2596113	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2596114	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2619665	0.81[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs8007949	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010801	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020240	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8022894	1.00[YRI][hapmap]
rs936579	1.00[YRI][hapmap]
rs977614	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1039554	chr14:81113167-81156335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1051964	chr14:81113167-81156847	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8005643	C14orf145	cis	cerebellum	SCAN
rs8005643	C14orf145	cis	parietal	SCAN
rs8005643	POMT2	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81106200-81135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81108200-81145800	Weak transcription	Fetal Thymus	thymus
3	chr14:81130200-81134800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:81132000-81145800	Weak transcription	HUVEC	blood vessel
5	chr14:81132600-81148400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:81133000-81135200	Weak transcription	Dnd41	blood
7	chr14:81133200-81133600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:81133400-81133600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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