Variant report

Variant	rs45469795
Chromosome Location	chr14:39583731-39583732
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:39583214-39583853	HL-60	blood:	n/a	n/a
2	POLR2A	chr14:39582984-39583954	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:39583304-39583840	GM12878	blood:	n/a	n/a
4	YY1	chr14:39583280-39583747	SK-N-SH_RA	brain:	n/a	chr14:39583716-39583727
5	POU2F2	chr14:39583196-39583848	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:39583057-39583839	PANC-1	pancreas:	n/a	n/a
7	REST	chr14:39583297-39583731	PFSK-1	brain:	n/a	n/a
8	MAFK	chr14:39583233-39583853	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:39583098-39583795	SK-N-MC	brain:	n/a	n/a
10	TAF1	chr14:39583285-39583832	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:39583212-39583836	GM18526	blood:	n/a	n/a
12	E2F6	chr14:39583021-39583734	A549	lung:	n/a	chr14:39583481-39583490
13	POLR2A	chr14:39583198-39583851	GM12891	blood:	n/a	n/a
14	MYC	chr14:39583242-39583803	K562	blood:	n/a	n/a
15	POLR2A	chr14:39583259-39583828	HepG2	liver:	n/a	n/a
16	MYC	chr14:39583226-39584024	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA2	chr14:39583144-39583945	HepG2	liver:	n/a	n/a
18	MAZ	chr14:39583125-39583928	Hela-S3	cervix:	n/a	n/a
19	RUNX3	chr14:39583187-39583761	GM12878	blood:	n/a	n/a
20	TAF1	chr14:39583082-39583914	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr14:39583265-39583851	HepG2	liver:	n/a	n/a
22	REST	chr14:39582923-39584191	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr14:39583135-39583757	U87	brain:	n/a	n/a
24	RAD21	chr14:39583402-39583767	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:39583278-39583760	A549	lung:	n/a	n/a
26	POLR2A	chr14:39583345-39583786	A549	lung:	n/a	n/a
27	RCOR1	chr14:39583143-39583903	Hela-S3	cervix:	n/a	n/a
28	SIN3A	chr14:39583323-39583987	H1-hESC	embryonic stem cell:	n/a	n/a
29	TAF1	chr14:39583235-39583852	HepG2	liver:	n/a	n/a
30	EGR1	chr14:39583694-39583888	K562	blood:	n/a	n/a
31	RCOR1	chr14:39583399-39584211	K562	blood:	n/a	n/a
32	NFIC	chr14:39583101-39584260	HepG2	liver:	n/a	n/a
33	ELF1	chr14:39583219-39583802	GM12878	blood:	n/a	n/a
34	REST	chr14:39583017-39583781	HL-60	blood:	n/a	n/a
35	CEBPB	chr14:39583219-39584060	A549	lung:	n/a	n/a
36	POLR2A	chr14:39583125-39583856	NB4	blood:	n/a	n/a
37	TAF1	chr14:39583109-39583925	A549	lung:	n/a	n/a
38	TAF1	chr14:39583291-39583825	K562	blood:	n/a	n/a
39	HCFC1	chr14:39583166-39583802	K562	blood:	n/a	n/a
40	POLR2A	chr14:39583252-39583855	A549	lung:	n/a	n/a
41	POLR2A	chr14:39583031-39583990	GM12878	blood:	n/a	n/a
42	CEBPB	chr14:39583208-39584316	K562	blood:	n/a	n/a
43	POLR2A	chr14:39583134-39583836	Hela-S3	cervix:	n/a	n/a
44	ELF1	chr14:39583185-39583839	HepG2	liver:	n/a	n/a
45	EBF1	chr14:39583229-39584139	GM12878	blood:	n/a	n/a
46	POLR2A	chr14:39583138-39584638	GM18505	blood:	n/a	n/a
47	CEBPB	chr14:39583198-39584100	MCF-7	breast:	n/a	n/a
48	EP300	chr14:39583229-39583745	K562	blood:	n/a	n/a
49	POLR2A	chr14:39583049-39583924	U87	brain:	n/a	n/a
50	POLR2A	chr14:39583195-39584120	GM19193	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39583285..39585580-chr14:39639274..39641168,2	K562	blood:
2	chr14:39583538..39585580-chr14:39639274..39642211,2	K562	blood:
3	chr14:39583495..39584330-chrX:47341692..47342487,2	Hela-S3	cervix:
4	chr14:39582528..39584759-chr14:39643385..39645029,2	K562	blood:
5	chr14:39582116..39585012-chr14:39643452..39645860,4	MCF-7	breast:
6	chr14:39582047..39584964-chr14:39643383..39645099,4	K562	blood:
7	chr14:39582622..39586619-chr14:39638047..39642701,6	MCF-7	breast:
8	chr14:39572488..39573108-chr14:39583111..39583768,2	HCT-116	colon:

No data

Variant related genes	Relation type
SEC23A	TF binding region
ENSG00000100934	Chromatin interaction
ENSG00000147124	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10483540	0.82[EUR][1000 genomes]
rs17108815	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45469295	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45540035	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55790340	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55880223	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55918207	0.89[EUR][1000 genomes]
rs55981737	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55987939	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55997577	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56032918	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56063785	0.89[EUR][1000 genomes]
rs56074634	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087094	0.89[EUR][1000 genomes]
rs56103446	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56125789	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs56136756	0.89[EUR][1000 genomes]
rs56225465	0.93[EUR][1000 genomes]
rs56225696	0.87[EUR][1000 genomes]
rs56237815	0.89[EUR][1000 genomes]
rs56276842	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56282196	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56328886	0.89[EUR][1000 genomes]
rs56333870	0.95[EUR][1000 genomes]
rs56334607	0.89[EUR][1000 genomes]
rs56335002	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341545	0.89[EUR][1000 genomes]
rs56404404	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57248532	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59418195	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6571907	0.82[EUR][1000 genomes]
rs67808375	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67970726	0.83[EUR][1000 genomes]
rs7147914	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7148908	0.88[EUR][1000 genomes]
rs7150638	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161065	0.82[EUR][1000 genomes]
rs72669383	0.80[EUR][1000 genomes]
rs72669388	0.89[EUR][1000 genomes]
rs72669397	0.89[EUR][1000 genomes]
rs72669399	0.87[EUR][1000 genomes]
rs72669400	0.87[EUR][1000 genomes]
rs72671304	0.87[EUR][1000 genomes]
rs72671307	0.87[EUR][1000 genomes]
rs72671309	0.85[EUR][1000 genomes]
rs72671311	0.87[EUR][1000 genomes]
rs72671316	0.89[EUR][1000 genomes]
rs72671332	0.87[EUR][1000 genomes]
rs72671333	0.89[EUR][1000 genomes]
rs72671344	0.89[EUR][1000 genomes]
rs72671349	0.89[EUR][1000 genomes]
rs72671353	0.89[EUR][1000 genomes]
rs72671360	0.93[EUR][1000 genomes]
rs72671362	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72671367	0.93[EUR][1000 genomes]
rs72671372	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72671379	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72671382	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72671387	0.98[EUR][1000 genomes]
rs72671398	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72671400	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72673307	0.88[EUR][1000 genomes]
rs72673314	0.98[EUR][1000 genomes]
rs72673315	1.00[EUR][1000 genomes]
rs72673316	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673317	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673318	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673328	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673329	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673340	0.89[EUR][1000 genomes]
rs72673346	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673350	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673357	0.89[EUR][1000 genomes]
rs72673359	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8009457	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39581800-39584200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:39582400-39584200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr14:39582400-39584400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr14:39582400-39584400	Active TSS	A549	lung
5	chr14:39582400-39584600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:39582800-39584000	Active TSS	Brain Hippocampus Middle	brain
7	chr14:39582800-39584000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr14:39582800-39584000	Active TSS	Brain Substantia Nigra	brain
9	chr14:39582800-39584000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr14:39582800-39584200	Active TSS	Colon Smooth Muscle	Colon
11	chr14:39582800-39584600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:39582800-39584600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr14:39583000-39583800	Active TSS	Primary T cells from cord blood	blood
14	chr14:39583000-39583800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr14:39583000-39584000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:39583000-39584000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:39583000-39584000	Active TSS	Aorta	Aorta
18	chr14:39583000-39584000	Active TSS	Brain Angular Gyrus	brain
19	chr14:39583000-39584000	Active TSS	Brain Anterior Caudate	brain
20	chr14:39583000-39584000	Active TSS	Brain Cingulate Gyrus	brain
21	chr14:39583000-39584000	Active TSS	Brain Germinal Matrix	brain
22	chr14:39583000-39584000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr14:39583000-39584000	Active TSS	Fetal Brain Female	brain
24	chr14:39583000-39584000	Active TSS	Fetal Intestine Large	intestine
25	chr14:39583000-39584000	Active TSS	Fetal Muscle Leg	muscle
26	chr14:39583000-39584000	Active TSS	Fetal Stomach	stomach
27	chr14:39583000-39584000	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr14:39583000-39584000	Active TSS	Thymus	Thymus
29	chr14:39583000-39584000	Active TSS	Osteobl	bone
30	chr14:39583000-39584200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:39583000-39584200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:39583000-39584200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr14:39583000-39584200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:39583000-39584200	Active TSS	Fetal Kidney	kidney
35	chr14:39583000-39584200	Active TSS	Ovary	ovary
36	chr14:39583000-39584200	Active TSS	Hela-S3	cervix
37	chr14:39583000-39584200	Active TSS	HMEC	breast
38	chr14:39583000-39584400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:39583000-39584400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:39583000-39584400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:39583000-39584400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr14:39583000-39584400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr14:39583000-39584400	Active TSS	Psoas Muscle	Psoas
44	chr14:39583000-39584400	Active TSS	Right Atrium	heart
45	chr14:39583000-39584400	Active TSS	NHLF	lung
46	chr14:39583000-39584600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:39583000-39584600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:39583000-39584600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:39583000-39584600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:39583000-39584600	Active TSS	Stomach Smooth Muscle	stomach

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