Variant report

Variant	rs73274683
Chromosome Location	chr14:63940305-63940306
allele	C/T
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	KAP1	chr14:63940028-63940401	U2OS	brain:	n/a	n/a
2	CEBPB	chr14:63940153-63940525	K562	blood:	n/a	chr14:63940359-63940370
3	CEBPB	chr14:63940169-63940542	K562	blood:	n/a	chr14:63940359-63940370
4	JUND	chr14:63940004-63940840	K562	blood:	n/a	n/a
5	CEBPB	chr14:63940177-63940560	Hela-S3	cervix:	n/a	chr14:63940359-63940370
6	CEBPB	chr14:63940192-63940517	IMR90	lung:	n/a	chr14:63940359-63940370
7	E2F4	chr14:63940157-63940470	MCF10A-Er-Src	breast:	n/a	n/a
8	TBL1XR1	chr14:63939869-63940522	K562	blood:	n/a	n/a
9	CEBPB	chr14:63940226-63940515	HepG2	liver:	n/a	chr14:63940359-63940370
10	CEBPB	chr14:63940081-63940560	HCT-116	colon:	n/a	chr14:63940359-63940370
11	EP300	chr14:63940243-63940509	SK-N-SH_RA	brain:	n/a	chr14:63940356-63940370
12	CEBPB	chr14:63940194-63940534	H1-hESC	embryonic stem cell:	n/a	chr14:63940359-63940370
13	EP300	chr14:63940200-63940529	SK-N-SH_RA	brain:	n/a	chr14:63940356-63940370
14	EP300	chr14:63940052-63940520	K562	blood:	n/a	chr14:63940356-63940370
15	POLR2A	chr14:63940244-63940444	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr14:63940284-63940563	MCF10A-Er-Src	breast:	n/a	chr14:63940342-63940349

Variant related genes	Relation type
RNU6-852P	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10483772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58971087	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274639	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274643	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274647	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274663	1.00[AFR][1000 genomes]
rs73274669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8004195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022747	0.92[AFR][1000 genomes];1.00[AMR][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63921000-63944600	Weak transcription	Dnd41	blood
2	chr14:63922000-63941600	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:63928000-63940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:63934400-63946400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:63934600-63940600	Weak transcription	Brain Substantia Nigra	brain
8	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:63936000-63940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:63936000-63942600	Weak transcription	Primary T cells from cord blood	blood
11	chr14:63936000-63945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:63936800-63940400	Enhancers	Small Intestine	intestine
13	chr14:63936800-63941800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr14:63937000-63941200	Enhancers	Liver	Liver
15	chr14:63937000-63941600	Weak transcription	Right Atrium	heart
16	chr14:63937200-63940800	Enhancers	NHEK	skin
17	chr14:63937200-63941000	Weak transcription	Esophagus	oesophagus
18	chr14:63937400-63941200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:63937600-63940600	Enhancers	Colon Smooth Muscle	Colon
20	chr14:63937600-63941000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:63937600-63941200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:63937600-63941400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:63937600-63941400	Enhancers	Fetal Intestine Large	intestine
24	chr14:63937600-63942400	Enhancers	K562	blood
25	chr14:63937800-63941000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:63937800-63941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:63937800-63941200	Enhancers	Hela-S3	cervix
28	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
29	chr14:63938000-63940400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:63938000-63940400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:63938000-63940600	Enhancers	Primary hematopoietic stem cells	blood
32	chr14:63938000-63941200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr14:63938000-63943200	Weak transcription	Brain Angular Gyrus	brain
34	chr14:63938200-63941000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:63938200-63942200	Enhancers	Right Ventricle	heart
36	chr14:63938200-63948000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:63938600-63940800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:63938600-63940800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:63938600-63941600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:63938600-63942600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:63938600-63942800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:63938600-63943000	Enhancers	HepG2	liver
43	chr14:63938600-63944400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:63938600-63944600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:63938600-63945200	Weak transcription	NHDF-Ad	bronchial
46	chr14:63938600-63948800	Weak transcription	HSMM	muscle
47	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
48	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:63938800-63940800	Weak transcription	Stomach Mucosa	stomach
50	chr14:63938800-63941600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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