Variant report

Variant	rs72687576
Chromosome Location	chr14:85707453-85707454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:85707430-85707723	SK-N-SH_RA	brain:	n/a	n/a
2	TEAD4	chr14:85707174-85707913	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr14:85707118-85708030	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr14:85707358-85707666	SK-N-SH_RA	brain:	n/a	n/a
5	MAX	chr14:85707303-85707869	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr14:85707295-85707864	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr14:85707204-85708037	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr14:85707382-85707618	Hela-S3	cervix:	n/a	n/a
9	ESR1	chr14:85707363-85707744	ECC-1	luminal epithelium:	n/a	n/a
10	FOXM1	chr14:85707152-85708063	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr14:85707452-85707711	Hela-S3	cervix:	n/a	n/a
12	EP300	chr14:85707178-85707888	ECC-1	luminal epithelium:	n/a	n/a
13	TCF12	chr14:85707185-85707992	ECC-1	luminal epithelium:	n/a	n/a
14	TEAD4	chr14:85707150-85708047	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr14:85707322-85707829	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr14:85707273-85707715	ECC-1	luminal epithelium:	n/a	n/a
17	NR3C1	chr14:85707356-85707798	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr14:85707171-85708121	ECC-1	luminal epithelium:	n/a	n/a
19	TCF7L2	chr14:85707429-85707759	PANC-1	pancreas:	n/a	n/a
20	NR3C1	chr14:85707293-85707809	ECC-1	luminal epithelium:	n/a	n/a
21	FOXA1	chr14:85707311-85707661	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr14:85707357-85707641	ECC-1	luminal epithelium:	n/a	n/a
23	NFIC	chr14:85707203-85708012	ECC-1	luminal epithelium:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000259044	TF binding region

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11846871	0.85[ASN][1000 genomes]
rs1375570	0.90[ASN][1000 genomes]
rs1449415	0.86[ASN][1000 genomes]
rs1562696	0.90[ASN][1000 genomes]
rs1667498	0.90[ASN][1000 genomes]
rs1667505	0.97[ASN][1000 genomes]
rs1667507	0.97[ASN][1000 genomes]
rs1667508	0.97[ASN][1000 genomes]
rs1767418	0.90[ASN][1000 genomes]
rs6574806	0.90[ASN][1000 genomes]
rs6574807	0.88[ASN][1000 genomes]
rs72687573	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687574	0.94[ASN][1000 genomes]
rs72687577	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687585	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8013627	0.87[ASN][1000 genomes]
rs8017958	0.82[ASN][1000 genomes]
rs8017968	0.82[ASN][1000 genomes]
rs9323754	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3401331	chr14:85332747-85716351	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832846	chr14:85517736-85715650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3381198	chr14:85690248-85709087	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv902168	chr14:85693904-85716792	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	esv2422273	chr14:85703149-85767292	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3414307	chr14:85705849-85708247	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	n/a
7	esv3437510	chr14:85706199-85707697	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85701200-85715200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:85705600-85708000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:85706200-85707800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:85706200-85715600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:85707200-85707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:85707200-85707600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:85707200-85707600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:85707200-85707600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr14:85707200-85707600	Enhancers	Hela-S3	cervix
10	chr14:85707200-85707800	Enhancers	HMEC	breast
11	chr14:85707200-85707800	Flanking Active TSS	HSMMtube	muscle
12	chr14:85707200-85708000	Flanking Active TSS	Fetal Kidney	kidney
13	chr14:85707200-85708000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:85707200-85708000	Flanking Active TSS	HUVEC	blood vessel
15	chr14:85707200-85708000	Active TSS	NH-A	brain
16	chr14:85707200-85708200	Enhancers	Fetal Stomach	stomach
17	chr14:85707200-85708400	Active TSS	Ovary	ovary
18	chr14:85707200-85709200	Enhancers	HSMM	muscle
19	chr14:85707200-85710800	Enhancers	Fetal Brain Male	brain
20	chr14:85707200-85710800	Enhancers	Fetal Brain Female	brain
21	chr14:85707400-85707600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:85707400-85707600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:85707400-85707600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:85707400-85707600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:85707400-85707600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr14:85707400-85707600	Bivalent Enhancer	Brain Substantia Nigra	brain
27	chr14:85707400-85707600	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr14:85707400-85707600	Enhancers	Fetal Intestine Small	intestine
29	chr14:85707400-85707600	Active TSS	Rectal Smooth Muscle	rectum
30	chr14:85707400-85707600	Enhancers	NHEK	skin
31	chr14:85707400-85707800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr14:85707400-85707800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
33	chr14:85707400-85707800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:85707400-85707800	Active TSS	Psoas Muscle	Psoas
35	chr14:85707400-85707800	Enhancers	Right Atrium	heart
36	chr14:85707400-85707800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr14:85707400-85707800	Active TSS	Osteobl	bone
38	chr14:85707400-85708000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr14:85707400-85708000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:85707400-85708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:85707400-85708000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:85707400-85708000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr14:85707400-85708000	Enhancers	Adipose Nuclei	Adipose
44	chr14:85707400-85708000	Enhancers	Brain Germinal Matrix	brain
45	chr14:85707400-85708000	Enhancers	Pancreas	Pancrea
46	chr14:85707400-85708200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:85707400-85708200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:85707400-85708400	Enhancers	Fetal Muscle Leg	muscle
49	chr14:85707400-85709800	Enhancers	Fetal Heart	heart
50	chr14:85707400-85710400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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