Variant report

Variant	rs73287521
Chromosome Location	chr14:39904443-39904444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP1	chr14:39901045-39904492	GM12878	blood:	n/a	chr14:39901741-39901751 chr14:39903823-39903837

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:39904443-39904493	BJ	skin:	n/a
2	chr14:39904416-39904466	AG04449	skin:	fetal
3	chr14:39904416-39904466	AG10803	skin:	n/a
4	chr14:39904443-39904493	NT2-D1	testis:	n/a
5	chr14:39904416-39904466	ProgFib	skin:	n/a
6	chr14:39904443-39904493	AG09309	skin:	n/a
7	chr14:39904416-39904466	GM12891	blood:	n/a
8	chr14:39904443-39904493	K562	blood:	n/a
9	chr14:39904416-39904466	ovcar-3	ovarian:	n/a
10	chr14:39904416-39904466	HRE	kidney:	n/a
11	chr14:39904416-39904466	Hepatocyte	liver:	n/a
12	chr14:39904416-39904466	HRPEpiC	eye:	n/a
13	chr14:39904443-39904493	ECC-1	luminal epithelium:	n/a
14	chr14:39904416-39904466	BE2_C	brain:	n/a
15	chr14:39904443-39904493	SAEC	small airway:	n/a
16	chr14:39904443-39904493	HL-60	blood:	n/a
17	chr14:39904416-39904466	Hela-S3	cervix:	n/a
18	chr14:39904443-39904493	Hepatocyte	liver:	n/a
19	chr14:39904416-39904466	ECC-1	luminal epithelium:	n/a
20	chr14:39904416-39904466	Jurkat	blood:	n/a
21	chr14:39904416-39904466	HIPEpiC	eye:	n/a
22	chr14:39904416-39904466	AG04450	lung:	fetal
23	chr14:39904416-39904466	CMK	blood:	n/a
24	chr14:39904443-39904493	ProgFib	skin:	n/a
25	chr14:39904416-39904466	GM19239	blood:	n/a
26	chr14:39904416-39904466	HCM	heart:	n/a
27	chr14:39904443-39904493	SK-N-MC	brain:	n/a
28	chr14:39904443-39904493	PFSK-1	brain:	n/a
29	chr14:39904416-39904466	PrEC	prostate:	n/a
30	chr14:39904416-39904466	NB4	blood:	n/a
31	chr14:39904416-39904466	K562	blood:	n/a
32	chr14:39904443-39904493	HCM	heart:	n/a
33	chr14:39904416-39904466	AG09309	skin:	n/a
34	chr14:39904416-39904466	HMEC	breast:	n/a
35	chr14:39904443-39904493	HepG2	liver:	n/a
36	chr14:39904443-39904493	HEEpiC	esophagus:	n/a
37	chr14:39904443-39904493	HCT-116	colon:	n/a
38	chr14:39904443-39904493	HMEC	breast:	n/a
39	chr14:39904416-39904466	HCF	heart:	n/a
40	chr14:39904416-39904466	MCF-7	breast:	n/a
41	chr14:39904443-39904493	MCF-7	breast:	n/a
42	chr14:39904416-39904466	A549	lung:	n/a
43	chr14:39904416-39904466	T-47D	breast:	n/a
44	chr14:39904416-39904466	HEK293	kidney:	embryo
45	chr14:39904443-39904493	HCPEpiC	choroid plexus:	n/a
46	chr14:39904416-39904466	HCT-116	colon:	n/a
47	chr14:39904443-39904493	NHDF-neo	bronchial:	n/a
48	chr14:39904443-39904493	GM12891	blood:	n/a
49	chr14:39904416-39904466	PANC-1	pancreas:	n/a
50	chr14:39904443-39904493	HCF	heart:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
2	chr14:39904079..39906204-chr14:39915198..39917525,2	MCF-7	breast:
3	chr14:39903003..39906043-chr14:39907787..39910140,3	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO33	TF binding region
FBXO33	CpG island
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs17109174	0.93[AFR][1000 genomes]
rs17109188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109227	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109249	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109318	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109331	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34909359	1.00[AMR][1000 genomes]
rs56859252	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57012657	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57430547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57569191	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57600452	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58889517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59546917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59597680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59741982	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59788308	1.00[AMR][1000 genomes]
rs60367463	1.00[AMR][1000 genomes]
rs60601774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60921042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61176483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61549948	1.00[AMR][1000 genomes]
rs61668966	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7148519	1.00[AMR][1000 genomes]
rs73277428	1.00[AMR][1000 genomes]
rs73277432	1.00[AMR][1000 genomes]
rs73277440	1.00[AMR][1000 genomes]
rs73277451	1.00[AMR][1000 genomes]
rs73277466	1.00[AMR][1000 genomes]
rs73277467	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277471	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277473	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277474	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277475	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277496	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277499	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279309	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279392	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281120	1.00[AMR][1000 genomes]
rs73283432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285564	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285569	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285591	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285598	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287518	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287554	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287572	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39902400-39910200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:39902400-39911400	Weak transcription	Gastric	stomach
3	chr14:39902800-39910200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:39903000-39910000	Weak transcription	Lung	lung
5	chr14:39903000-39910800	Weak transcription	Fetal Brain Male	brain
6	chr14:39903000-39911200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:39903000-39912600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:39903000-39916400	Weak transcription	Fetal Heart	heart
9	chr14:39903200-39910800	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:39903200-39912000	Weak transcription	Aorta	Aorta

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