Variant report

Variant	rs12434021
Chromosome Location	chr14:35152084-35152085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35149872..35152773-chr14:35155685..35158486,2	MCF-7	breast:
2	chr14:35149549..35152323-chr14:35213699..35215325,2	MCF-7	breast:
3	chr14:35150230..35152765-chr14:35168085..35171120,3	MCF-7	breast:
4	chr14:35135275..35136944-chr14:35151040..35152580,2	MCF-7	breast:
5	chr14:35150005..35152867-chr14:35168615..35170921,2	MCF-7	breast:
6	chr14:35150818..35153695-chr14:36294438..36295963,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100916	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11620786	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296174	1.00[ASN][1000 genomes]
rs4488366	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv564195	chr14:35107957-35153991	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1038792	chr14:35108080-35160860	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1053843	chr14:35110120-35167640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv542028	chr14:35110120-35167640	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1049026	chr14:35110285-35160860	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv564196	chr14:35110512-35152084	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv564198	chr14:35118196-35152084	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv542029	chr14:35118620-35152886	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv564199	chr14:35135186-35167362	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12434021	EAPP	cis	cerebellum	SCAN
rs12434021	NFKBIA	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35146600-35152200	Weak transcription	Psoas Muscle	Psoas
2	chr14:35147600-35152200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:35147800-35152200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:35147800-35152200	Weak transcription	K562	blood
5	chr14:35148000-35152200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:35148000-35153800	Weak transcription	NHLF	lung
7	chr14:35148000-35155000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:35148000-35155200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:35148000-35161600	Weak transcription	A549	lung
10	chr14:35148200-35152200	Weak transcription	NH-A	brain
11	chr14:35148200-35152200	Weak transcription	NHDF-Ad	bronchial
12	chr14:35148200-35154000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:35148800-35155000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:35150800-35157000	Weak transcription	Liver	Liver
15	chr14:35151000-35152200	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:35151600-35153000	Enhancers	HSMMtube	muscle
17	chr14:35151800-35152400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:35151800-35152800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:35151800-35152800	Enhancers	Fetal Heart	heart
20	chr14:35152000-35152200	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr14:35152000-35152200	Enhancers	HepG2	liver
22	chr14:35152000-35152400	Enhancers	Adipose Nuclei	Adipose
23	chr14:35152000-35152600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:35152000-35152600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:35152000-35152600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:35152000-35152600	Enhancers	Brain Angular Gyrus	brain
27	chr14:35152000-35152600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr14:35152000-35152600	Enhancers	Osteobl	bone
29	chr14:35152000-35152800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:35152000-35152800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:35152000-35152800	Enhancers	Brain Cingulate Gyrus	brain
32	chr14:35152000-35152800	Enhancers	Fetal Muscle Leg	muscle
33	chr14:35152000-35152800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr14:35152000-35152800	Enhancers	GM12878-XiMat	blood
35	chr14:35152000-35152800	Enhancers	HSMM	muscle
36	chr14:35152000-35153000	Enhancers	Primary neutrophils fromperipheralblood	blood

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