Variant report

Variant	rs61989801
Chromosome Location	chr14:65692504-65692505
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr14:65691459-65692687	GM12878	blood:	n/a	n/a
2	FOXM1	chr14:65692090-65692627	GM12878	blood:	n/a	n/a
3	BCL11A	chr14:65692188-65692602	GM12878	blood:	n/a	n/a
4	RUNX3	chr14:65691391-65692799	GM12878	blood:	n/a	chr14:65692187-65692196 chr14:65692187-65692196
5	MTA3	chr14:65692006-65692651	GM12878	blood:	n/a	n/a
6	BCL11A	chr14:65692239-65692563	GM12878	blood:	n/a	n/a
7	NFIC	chr14:65691929-65692671	GM12878	blood:	n/a	n/a
8	MTA3	chr14:65691323-65692740	GM12878	blood:	n/a	n/a
9	IRF4	chr14:65692178-65692659	GM12878	blood:	n/a	n/a
10	EP300	chr14:65692296-65692570	GM12878	blood:	n/a	n/a
11	BATF	chr14:65692027-65692648	GM12878	blood:	n/a	n/a
12	BCL3	chr14:65692178-65692599	GM12878	blood:	n/a	n/a
13	PML	chr14:65692086-65692847	GM12878	blood:	n/a	n/a
14	BHLHE40	chr14:65692278-65692564	GM12878	blood:	n/a	n/a
15	IRF4	chr14:65692126-65692673	GM12878	blood:	n/a	n/a
16	ATF2	chr14:65692024-65692684	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr14:65692244-65692570	GM12878	blood:	n/a	n/a
18	STAT5A	chr14:65692189-65692738	GM12878	blood:	n/a	n/a
19	EP300	chr14:65692132-65692527	GM12878	blood:	n/a	n/a
20	RUNX3	chr14:65691472-65692805	GM12878	blood:	n/a	chr14:65692187-65692196 chr14:65692187-65692196
21	IKZF1	chr14:65691447-65692683	GM12878	blood:	n/a	chr14:65691820-65691828 chr14:65691947-65691959
22	BATF	chr14:65692206-65692615	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:65685682..65688470-chr14:65691307..65693933,2	MCF-7	breast:
2	chr14:65657472..65658987-chr14:65692347..65693955,2	MCF-7	breast:
3	chr14:65692463..65695041-chr14:65818683..65822827,3	MCF-7	breast:
4	chr14:65684066..65685787-chr14:65691739..65693406,2	MCF-7	breast:
5	chr14:65583557..65585174-chr14:65692284..65694348,2	MCF-7	breast:
6	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:
7	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:
8	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
9	chr14:65681059..65683272-chr14:65691597..65694149,3	MCF-7	breast:
10	chr14:65647388..65649639-chr14:65690929..65693608,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255002	TF binding region
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1123493	0.88[EUR][1000 genomes]
rs17102508	0.86[ASN][1000 genomes]
rs55722250	0.83[AMR][1000 genomes]
rs55867601	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116751	0.88[EUR][1000 genomes]
rs58250564	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989800	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989804	0.83[AMR][1000 genomes]
rs61989805	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7141109	1.00[ASN][1000 genomes]
rs7153564	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155037	0.86[EUR][1000 genomes]
rs7159202	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65688200-65696400	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:65688400-65693000	Enhancers	Primary T cells from cord blood	blood
3	chr14:65688800-65692800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr14:65689000-65692800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:65689000-65693000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:65689200-65695000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:65689400-65692800	Weak transcription	Right Atrium	heart
8	chr14:65689400-65693200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:65689400-65696200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:65690000-65696600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:65691000-65692600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:65691000-65696400	Enhancers	Primary B cells from cord blood	blood
13	chr14:65691000-65696400	Enhancers	Brain Substantia Nigra	brain
14	chr14:65691200-65692800	Enhancers	Primary hematopoietic stem cells	blood
15	chr14:65691200-65693000	Enhancers	Fetal Thymus	thymus
16	chr14:65691200-65695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:65691200-65696400	Enhancers	Fetal Intestine Large	intestine
18	chr14:65691200-65696600	Enhancers	Placenta	Placenta
19	chr14:65691200-65696600	Enhancers	Stomach Mucosa	stomach
20	chr14:65691400-65692600	Flanking Active TSS	GM12878-XiMat	blood
21	chr14:65691400-65692800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:65691400-65692800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:65691400-65692800	Enhancers	Fetal Lung	lung
24	chr14:65691400-65692800	Enhancers	HepG2	liver
25	chr14:65691400-65693000	Enhancers	Lung	lung
26	chr14:65691400-65693200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:65691400-65693200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:65691400-65693400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:65691400-65693400	Enhancers	Brain Germinal Matrix	brain
30	chr14:65691400-65693400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:65691400-65694000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr14:65691400-65694200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:65691400-65694200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:65691400-65694200	Enhancers	Brain Anterior Caudate	brain
35	chr14:65691400-65694200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:65691400-65694400	Enhancers	Brain Angular Gyrus	brain
37	chr14:65691400-65694400	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:65691400-65694400	Enhancers	NHDF-Ad	bronchial
39	chr14:65691400-65696200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr14:65691400-65696400	Enhancers	Fetal Intestine Small	intestine
41	chr14:65691400-65696400	Enhancers	Pancreas	Pancrea
42	chr14:65691400-65697600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:65691600-65693200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:65691600-65693200	Enhancers	Left Ventricle	heart
45	chr14:65691600-65693400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr14:65691600-65693400	Weak transcription	HSMM	muscle
47	chr14:65691600-65693800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr14:65691600-65694200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr14:65691600-65694200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:65691600-65694400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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