Variant report

Variant	rs12434405
Chromosome Location	chr14:81044614-81044615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81033414..81035767-chr14:81040796..81044689,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10498546	0.92[JPT][hapmap]
rs12432505	0.89[GIH][hapmap]
rs12437092	0.89[GIH][hapmap]
rs17110752	0.85[GIH][hapmap]
rs17110796	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17110799	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.81[MKK][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17110803	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17110815	0.81[CHB][hapmap];0.85[AMR][1000 genomes]
rs17110880	0.92[CEU][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1871457	0.94[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs2122429	0.92[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2596115	0.85[GIH][hapmap];0.92[JPT][hapmap]
rs56341421	0.82[AMR][1000 genomes]
rs58877537	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7160951	0.92[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72689053	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72689058	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72689070	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72689071	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72689095	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs8008191	0.90[EUR][1000 genomes]
rs8017017	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8017133	0.87[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8017609	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8017722	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8022733	0.94[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv902116	chr14:81018237-81082400	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12434405	C14orf145	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81029600-81044800	Weak transcription	Dnd41	blood
2	chr14:81037000-81051000	Weak transcription	NHEK	skin
3	chr14:81037200-81050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81037200-81050800	Weak transcription	HMEC	breast
5	chr14:81041400-81046200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:81042800-81048400	Weak transcription	Psoas Muscle	Psoas
7	chr14:81043000-81046400	Enhancers	HepG2	liver
8	chr14:81043000-81050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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