Variant report

Variant	rs12147814
Chromosome Location	chr14:65963175-65963176
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65963092..65965486-chr14:65966125..65968335,2	MCF-7	breast:
2	chr14:65960132..65963977-chr14:65971617..65974419,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12147506	0.93[EUR][1000 genomes]
rs12147773	1.00[EUR][1000 genomes]
rs17102656	1.00[EUR][1000 genomes]
rs4383066	1.00[EUR][1000 genomes]
rs59938364	1.00[EUR][1000 genomes]
rs7350748	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
2	chr14:65938400-65963400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr14:65939000-65969400	Weak transcription	Dnd41	blood
4	chr14:65945200-65980000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:65949600-65970200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:65950000-65965000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:65950000-65966000	Weak transcription	Psoas Muscle	Psoas
8	chr14:65950000-65969400	Weak transcription	NH-A	brain
9	chr14:65950000-65973400	Weak transcription	Gastric	stomach
10	chr14:65952600-65963200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:65953800-65970600	Weak transcription	Stomach Mucosa	stomach
12	chr14:65957600-65964200	ZNF genes & repeats	GM12878-XiMat	blood
13	chr14:65957600-65967800	Weak transcription	Small Intestine	intestine
14	chr14:65959400-65963400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:65959800-65965200	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:65960600-65967800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:65962000-65965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:65962200-65963800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:65962200-65969400	Weak transcription	Osteobl	bone
20	chr14:65962200-65969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:65962400-65963600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr14:65963000-65963600	ZNF genes & repeats	Primary T cells from cord blood	blood

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