Variant report

Variant	rs894917
Chromosome Location	chr14:66504790-66504791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:66503922..66506813-chr14:66507325..66508941,2	MCF-7	breast:
2	chr14:66504509..66507103-chr14:66519083..66521992,2	MCF-7	breast:
3	chr14:66499645..66502736-chr14:66504498..66507411,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10131880	0.95[ASN][1000 genomes]
rs1273868	0.97[ASN][1000 genomes]
rs17103234	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1967989	0.93[ASN][1000 genomes]
rs28510347	0.93[ASN][1000 genomes]
rs28605106	0.93[ASN][1000 genomes]
rs875783	0.81[GIH][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	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1043864	chr14:66372458-66845503	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv917338	chr14:66376591-66841403	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs894917	AKAP5	cis	cerebellum	SCAN
rs894917	ATP6V1D	cis	parietal	SCAN
rs894917	PIGH	cis	parietal	SCAN
rs894917	PDHA2	trans	parietal	SCAN
rs894917	CHURC1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66501800-66505000	Weak transcription	Ovary	ovary
2	chr14:66503200-66506000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:66503200-66506000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:66503800-66504800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:66503800-66505600	Enhancers	Placenta	Placenta
6	chr14:66504200-66505200	Enhancers	Spleen	Spleen
7	chr14:66504200-66505600	Enhancers	Brain Substantia Nigra	brain
8	chr14:66504400-66506200	Enhancers	Colon Smooth Muscle	Colon
9	chr14:66504600-66505000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:66504600-66505200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:66504600-66505200	Enhancers	Adipose Nuclei	Adipose
12	chr14:66504600-66505200	Enhancers	Right Ventricle	heart
13	chr14:66504600-66505400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:66504600-66505400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:66504600-66505600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:66504600-66505600	Enhancers	Brain Anterior Caudate	brain
17	chr14:66504600-66505600	Enhancers	Left Ventricle	heart
18	chr14:66504600-66505800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:66504600-66506000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:66504600-66506200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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