Variant report

Variant	rs35927240
Chromosome Location	chr14:85707716-85707717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 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	MAX	chr14:85707303-85707869	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr14:85707295-85707864	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr14:85707204-85708037	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr14:85707363-85707744	ECC-1	luminal epithelium:	n/a	n/a
8	FOXM1	chr14:85707152-85708063	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr14:85707178-85707888	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr14:85707185-85707992	ECC-1	luminal epithelium:	n/a	n/a
11	TEAD4	chr14:85707150-85708047	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr14:85707322-85707829	ECC-1	luminal epithelium:	n/a	n/a
13	NR3C1	chr14:85707356-85707798	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr14:85707171-85708121	ECC-1	luminal epithelium:	n/a	n/a
15	TCF7L2	chr14:85707429-85707759	PANC-1	pancreas:	n/a	n/a
16	NR3C1	chr14:85707293-85707809	ECC-1	luminal epithelium:	n/a	n/a
17	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: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11626130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147907	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879844	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881773	1.00[ASN][1000 genomes]
rs12896378	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896555	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12897078	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375574	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17201769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17796627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34003123	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35112032	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59671854	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66792363	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67123871	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685724	1.00[ASN][1000 genomes]
rs72687543	1.00[ASN][1000 genomes]
rs72687586	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013627	0.80[EUR][1000 genomes]
rs9671968	1.00[ASN][1000 genomes]
rs967282	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:43 , 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	chr14:85707200-85707800	Enhancers	HMEC	breast
6	chr14:85707200-85707800	Flanking Active TSS	HSMMtube	muscle
7	chr14:85707200-85708000	Flanking Active TSS	Fetal Kidney	kidney
8	chr14:85707200-85708000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr14:85707200-85708000	Flanking Active TSS	HUVEC	blood vessel
10	chr14:85707200-85708000	Active TSS	NH-A	brain
11	chr14:85707200-85708200	Enhancers	Fetal Stomach	stomach
12	chr14:85707200-85708400	Active TSS	Ovary	ovary
13	chr14:85707200-85709200	Enhancers	HSMM	muscle
14	chr14:85707200-85710800	Enhancers	Fetal Brain Male	brain
15	chr14:85707200-85710800	Enhancers	Fetal Brain Female	brain
16	chr14:85707400-85707800	Active TSS	Muscle Satellite Cultured Cells	--
17	chr14:85707400-85707800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
18	chr14:85707400-85707800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:85707400-85707800	Active TSS	Psoas Muscle	Psoas
20	chr14:85707400-85707800	Enhancers	Right Atrium	heart
21	chr14:85707400-85707800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr14:85707400-85707800	Active TSS	Osteobl	bone
23	chr14:85707400-85708000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:85707400-85708000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:85707400-85708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:85707400-85708000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:85707400-85708000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:85707400-85708000	Enhancers	Adipose Nuclei	Adipose
29	chr14:85707400-85708000	Enhancers	Brain Germinal Matrix	brain
30	chr14:85707400-85708000	Enhancers	Pancreas	Pancrea
31	chr14:85707400-85708200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:85707400-85708200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:85707400-85708400	Enhancers	Fetal Muscle Leg	muscle
34	chr14:85707400-85709800	Enhancers	Fetal Heart	heart
35	chr14:85707400-85710400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:85707600-85707800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:85707600-85707800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:85707600-85707800	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr14:85707600-85707800	Active TSS	Stomach Smooth Muscle	stomach
40	chr14:85707600-85707800	Weak transcription	NHEK	skin
41	chr14:85707600-85708000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr14:85707600-85708000	Active TSS	Colon Smooth Muscle	Colon
43	chr14:85707600-85713800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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