Variant report

Variant	rs9323058
Chromosome Location	chr14:42692456-42692457
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	chr14:42676503..42678368-chr14:42692363..42693936,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28445186	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58277989	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58728690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72672600	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72672601	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72674307	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72674309	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72674312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv901741	chr14:42552103-42769284	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1050902	chr14:42561191-42756355	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1047661	chr14:42564650-42857088	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1041268	chr14:42579874-42857088	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1043136	chr14:42581454-42852012	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv542058	chr14:42581454-42852012	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv901742	chr14:42584172-43061497	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1054179	chr14:42653021-42776098	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1045255	chr14:42653021-43167389	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv542059	chr14:42653021-43167389	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv901743	chr14:42672410-43030843	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1037944	chr14:42686650-42817052	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1036016	chr14:42686650-42922136	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1049689	chr14:42686650-42943116	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42691400-42693600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr14:42691400-42693600	Enhancers	NH-A	brain
3	chr14:42691400-42693800	Enhancers	NHDF-Ad	bronchial
4	chr14:42691400-42694000	Enhancers	Primary B cells from cord blood	blood
5	chr14:42691600-42693600	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:42691600-42693600	Enhancers	HMEC	breast
7	chr14:42692000-42692600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:42692000-42692800	Enhancers	Fetal Brain Female	brain
9	chr14:42692000-42692800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr14:42692000-42693400	Enhancers	Colon Smooth Muscle	Colon
11	chr14:42692000-42693600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:42692200-42693600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:42692200-42693600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:42692200-42693600	Enhancers	Fetal Muscle Leg	muscle
15	chr14:42692200-42693600	Enhancers	NHEK	skin
16	chr14:42692400-42692600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:42692400-42692800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:42692400-42692800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:42692400-42692800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:42692400-42692800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:42692400-42692800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:42692400-42692800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:42692400-42692800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:42692400-42692800	Enhancers	Adipose Nuclei	Adipose
25	chr14:42692400-42692800	Enhancers	Brain Angular Gyrus	brain
26	chr14:42692400-42692800	Flanking Active TSS	GM12878-XiMat	blood
27	chr14:42692400-42692800	Enhancers	HSMMtube	muscle
28	chr14:42692400-42692800	Flanking Active TSS	Osteobl	bone
29	chr14:42692400-42693400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:42692400-42693400	Enhancers	HSMM	muscle
31	chr14:42692400-42693600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:42692400-42693600	Enhancers	Fetal Kidney	kidney
33	chr14:42692400-42693600	Enhancers	A549	lung

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