Variant report

Variant	rs73348284
Chromosome Location	chr14:45439374-45439375
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	chr14:45432794..45435904-chr14:45437854..45440378,3	K562	blood:
2	chr14:45433894..45436353-chr14:45438696..45441267,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17115763	1.00[AMR][1000 genomes]
rs73340618	1.00[AMR][1000 genomes]
rs73340627	1.00[AMR][1000 genomes]
rs73348086	1.00[AMR][1000 genomes]
rs73348091	1.00[AMR][1000 genomes]
rs73348098	1.00[AMR][1000 genomes]
rs73348277	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348291	1.00[AMR][1000 genomes]
rs73349823	1.00[AMR][1000 genomes]
rs73350014	1.00[AMR][1000 genomes]
rs73352208	1.00[AMR][1000 genomes]
rs73352236	1.00[AMR][1000 genomes]
rs73352240	1.00[AMR][1000 genomes]
rs73352243	1.00[AMR][1000 genomes]
rs73353653	1.00[AMR][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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
2	chr14:45433800-45440200	Weak transcription	Placenta	Placenta
3	chr14:45434200-45441000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
5	chr14:45436200-45440200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:45436200-45441200	Weak transcription	Spleen	Spleen
7	chr14:45436200-45441600	Weak transcription	Lung	lung
8	chr14:45436200-45445600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:45436200-45486600	Weak transcription	Gastric	stomach
10	chr14:45436800-45441200	Weak transcription	Primary B cells from cord blood	blood
11	chr14:45436800-45461400	Weak transcription	K562	blood
12	chr14:45437000-45439800	Weak transcription	Osteobl	bone
13	chr14:45437000-45440000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:45437000-45441200	Weak transcription	Fetal Lung	lung
15	chr14:45437000-45444200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:45437000-45449000	Weak transcription	Fetal Stomach	stomach
17	chr14:45437000-45451800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:45437200-45440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:45437200-45449400	Weak transcription	Liver	Liver
26	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:45437400-45441400	Weak transcription	Aorta	Aorta
29	chr14:45437600-45440600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:45437800-45439400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:45437800-45439400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:45438000-45442400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
34	chr14:45438200-45439400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
35	chr14:45438200-45439400	Enhancers	Brain Anterior Caudate	brain
36	chr14:45438200-45439400	Weak transcription	Fetal Heart	heart
37	chr14:45438200-45440000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:45438200-45441200	Weak transcription	Brain Germinal Matrix	brain
39	chr14:45438200-45444000	Weak transcription	Brain Substantia Nigra	brain
40	chr14:45438200-45448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:45438200-45449000	Weak transcription	Adipose Nuclei	Adipose
42	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:45438400-45439800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr14:45438400-45441600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:45438600-45445200	Weak transcription	Ovary	ovary
46	chr14:45438600-45448400	Weak transcription	Fetal Intestine Large	intestine
47	chr14:45438600-45451800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:45438800-45439400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr14:45438800-45439400	Strong transcription	Psoas Muscle	Psoas
50	chr14:45438800-45439400	ZNF genes & repeats	HepG2	liver

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