Variant report

Variant	rs56327470
Chromosome Location	chr14:71285547-71285548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71284562..71285549-chr14:71293842..71294472,2	K562	blood:
2	chr14:71274346..71277930-chr14:71282688..71286374,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006432	Chromatin interaction
ENSG00000259153	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12590049	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108546	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17177097	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17177187	0.88[EUR][1000 genomes]
rs17766621	0.88[EUR][1000 genomes]
rs1859463	0.88[EUR][1000 genomes]
rs4902856	0.88[EUR][1000 genomes]
rs55717811	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55881198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153836	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71277200-71288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:71277200-71288400	Weak transcription	Pancreas	Pancrea
3	chr14:71277800-71288000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:71279400-71286200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:71279400-71288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:71280200-71287800	Weak transcription	NHEK	skin
7	chr14:71282800-71288400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:71284200-71287600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:71284400-71285600	Weak transcription	Lung	lung
10	chr14:71284400-71286800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:71284400-71286800	Weak transcription	Osteobl	bone
12	chr14:71284400-71287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:71284400-71287800	Weak transcription	Liver	Liver
14	chr14:71284400-71288000	Weak transcription	Psoas Muscle	Psoas
15	chr14:71284400-71288200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:71284400-71288200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:71284800-71287800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:71284800-71287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:71284800-71288000	Weak transcription	A549	lung
20	chr14:71284800-71288200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:71285000-71287600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:71285000-71287600	Weak transcription	HMEC	breast
23	chr14:71285000-71287800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:71285000-71287800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:71285000-71288200	Weak transcription	GM12878-XiMat	blood
26	chr14:71285000-71288800	Weak transcription	Hela-S3	cervix
27	chr14:71285200-71288000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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