Variant report

Variant	rs73348920
Chromosome Location	chr14:45375785-45375786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45364906..45367989-chr14:45374169..45379484,7	MCF-7	breast:
2	chr14:45367880..45372547-chr14:45375215..45379814,5	MCF-7	breast:
3	chr14:45369504..45371018-chr14:45373879..45376825,2	K562	blood:
4	chr14:45373435..45375914-chr14:45381122..45384110,3	MCF-7	breast:
5	chr14:45374504..45378148-chr14:45430345..45433217,3	K562	blood:

Variant related genes	Relation type
ENSG00000198718	Chromatin interaction
ENSG00000258633	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000179476	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11847933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851764	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115679	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115680	1.00[EUR][1000 genomes]
rs17115681	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45550535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56988712	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57494105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58152153	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58557583	1.00[EUR][1000 genomes]
rs59698927	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60595870	0.89[AFR][1000 genomes]
rs60713065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6572288	1.00[EUR][1000 genomes]
rs73347154	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347158	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347199	1.00[EUR][1000 genomes]
rs73348927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348928	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45367200-45376400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:45367400-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:45367400-45381200	Weak transcription	Lung	lung
4	chr14:45367600-45376400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr14:45367600-45376400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:45367600-45376600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:45367600-45381400	Weak transcription	HSMM	muscle
8	chr14:45367800-45376400	Weak transcription	Fetal Intestine Large	intestine
9	chr14:45367800-45376800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:45367800-45378200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:45367800-45380000	Weak transcription	Fetal Kidney	kidney
12	chr14:45367800-45380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:45368000-45376600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:45368000-45377000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:45368000-45377200	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:45368000-45377800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:45368000-45377800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:45368000-45378200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:45368000-45378200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:45368000-45380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:45368200-45376600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:45368200-45377000	Weak transcription	HUVEC	blood vessel
23	chr14:45368200-45377200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:45368200-45377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:45368200-45377600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:45368200-45378000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:45368200-45378400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:45368200-45380000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:45368200-45380200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:45368200-45381000	Weak transcription	Brain Anterior Caudate	brain
31	chr14:45368200-45381000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:45368400-45378800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:45368400-45379000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:45368400-45380000	Weak transcription	HSMMtube	muscle
36	chr14:45368400-45380200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:45368400-45380800	Weak transcription	Brain Substantia Nigra	brain
38	chr14:45368400-45381000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:45368600-45376800	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:45368600-45380600	Weak transcription	Fetal Lung	lung
41	chr14:45368600-45380600	Weak transcription	Fetal Stomach	stomach
42	chr14:45368800-45378200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:45368800-45381000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:45370000-45376200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:45371600-45378600	Weak transcription	Brain Germinal Matrix	brain
46	chr14:45371600-45380600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:45371600-45381200	Weak transcription	Pancreas	Pancrea
48	chr14:45371800-45377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:45371800-45380600	Weak transcription	Ovary	ovary
50	chr14:45371800-45381000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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