Variant report

Variant	rs72720380
Chromosome Location	chr14:64680713-64680714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr14:64680662-64680769	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64669769..64672305-chr14:64678227..64680767,2	MCF-7	breast:
2	chr14:64679549..64681782-chr14:64683797..64685712,2	K562	blood:

Variant related genes	Relation type
SYNE2	TF binding region
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12432029	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12434245	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12435284	0.82[EUR][1000 genomes]
rs28440970	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55947517	0.89[EUR][1000 genomes]
rs66969518	0.85[EUR][1000 genomes]
rs7145919	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7159462	0.82[EUR][1000 genomes]
rs72720372	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720375	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720376	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720382	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72722305	0.82[EUR][1000 genomes]
rs72722317	0.82[EUR][1000 genomes]
rs72722320	0.82[EUR][1000 genomes]
rs72722324	0.82[EUR][1000 genomes]
rs72722326	0.82[EUR][1000 genomes]
rs8005720	0.82[EUR][1000 genomes]
rs8013331	0.89[EUR][1000 genomes]
rs8020953	0.82[EUR][1000 genomes]
rs8021944	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022694	1.00[AFR][1000 genomes];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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64660800-64682600	Weak transcription	Hela-S3	cervix
2	chr14:64664000-64699600	Weak transcription	Small Intestine	intestine
3	chr14:64664200-64698600	Weak transcription	HMEC	breast
4	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:64666200-64686000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:64666800-64699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:64667400-64690200	Weak transcription	HepG2	liver
8	chr14:64667600-64686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:64669200-64682000	Weak transcription	Fetal Brain Male	brain
10	chr14:64672800-64696600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr14:64674600-64696000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:64674600-64696200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:64674600-64696400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:64674600-64699800	Strong transcription	Liver	Liver
15	chr14:64674800-64680800	Strong transcription	Placenta	Placenta
16	chr14:64674800-64683400	Strong transcription	Fetal Brain Female	brain
17	chr14:64674800-64683800	Strong transcription	Adipose Nuclei	Adipose
18	chr14:64674800-64684400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:64674800-64686800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:64674800-64689000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr14:64674800-64689000	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr14:64674800-64692400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:64674800-64692600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:64674800-64692800	Strong transcription	Primary T cells from cord blood	blood
25	chr14:64674800-64695800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:64674800-64696000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:64674800-64696000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:64674800-64696000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:64674800-64696200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:64674800-64696200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:64674800-64696200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:64674800-64696400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr14:64674800-64696400	Strong transcription	Dnd41	blood
34	chr14:64674800-64696800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:64674800-64697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:64674800-64698400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:64674800-64699000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:64674800-64700000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:64674800-64700600	Strong transcription	Fetal Intestine Large	intestine
40	chr14:64675000-64685000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:64675000-64689000	Strong transcription	Aorta	Aorta
42	chr14:64675000-64696400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:64675000-64696400	Strong transcription	Brain Germinal Matrix	brain
44	chr14:64675200-64683400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:64675200-64696400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:64675400-64687600	Strong transcription	Brain Anterior Caudate	brain
47	chr14:64675400-64689200	Strong transcription	Rectal Smooth Muscle	rectum
48	chr14:64675400-64695200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:64675400-64696200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:64675600-64691800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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