Variant report

Variant	rs72716314
Chromosome Location	chr14:64004162-64004163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64002758..64004545-chr14:64107704..64109454,2	MCF-7	breast:
2	chr14:64001379..64005910-chr14:64007202..64013197,8	MCF-7	breast:
3	chr14:64003609..64005715-chr14:64007525..64011061,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261242	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000154001	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3783745	0.82[EUR][1000 genomes]
rs72714233	0.82[EUR][1000 genomes]
rs72716308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
3	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
4	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
5	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
6	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:63975600-64005800	Weak transcription	K562	blood
8	chr14:63980800-64008000	Weak transcription	Small Intestine	intestine
9	chr14:63981800-64004400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:63981800-64008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:63988800-64008200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:63990000-64008800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:63991000-64004600	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:63991200-64006000	Weak transcription	Fetal Kidney	kidney
15	chr14:63991400-64007800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:63991600-64004400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:63991600-64004800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:63991600-64008200	Weak transcription	Colonic Mucosa	Colon
19	chr14:63991800-64004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:63991800-64004600	Weak transcription	Left Ventricle	heart
21	chr14:63991800-64008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:63991800-64008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:63991800-64008800	Weak transcription	Gastric	stomach
24	chr14:63991800-64008800	Weak transcription	Pancreas	Pancrea
25	chr14:63992000-64007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:63992000-64008800	Weak transcription	Psoas Muscle	Psoas
27	chr14:63992200-64005800	Weak transcription	Brain Angular Gyrus	brain
28	chr14:63992200-64007600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:63992400-64004400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:63992400-64008000	Weak transcription	Right Ventricle	heart
31	chr14:63992600-64007600	Weak transcription	Fetal Heart	heart
32	chr14:63993800-64004800	Weak transcription	Lung	lung
33	chr14:63996800-64008000	Weak transcription	Stomach Mucosa	stomach
34	chr14:63997400-64006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:63997600-64006200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:63997800-64006800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:63998400-64007000	Strong transcription	Fetal Thymus	thymus
38	chr14:63998600-64006600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr14:63998600-64006800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr14:63998600-64007600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:63998800-64006600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:63998800-64006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:63999200-64006800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:63999200-64007000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:63999200-64007000	Strong transcription	Dnd41	blood
46	chr14:63999400-64005400	Strong transcription	Thymus	Thymus
47	chr14:63999400-64006800	Strong transcription	Fetal Muscle Leg	muscle
48	chr14:63999600-64006800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:63999800-64006800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:63999800-64008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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