Variant report

Variant	rs3959248
Chromosome Location	chr19:51728380-51728381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr19:51728182-51728393	K562	blood:	n/a	n/a
2	TAF1	chr19:51728070-51728489	K562	blood:	n/a	n/a
3	SPI1	chr19:51728122-51728631	GM12878	blood:	n/a	chr19:51728325-51728332 chr19:51728323-51728336 chr19:51728319-51728332
4	POLR2A	chr19:51728278-51728520	MCF-7	breast:	n/a	n/a
5	MAX	chr19:51728142-51728526	K562	blood:	n/a	n/a
6	ELF1	chr19:51728081-51728777	K562	blood:	n/a	n/a
7	POLR2A	chr19:51728029-51728573	Hela-S3	cervix:	n/a	n/a
8	PML	chr19:51728091-51728502	K562	blood:	n/a	chr19:51728244-51728252
9	POLR2A	chr19:51728005-51728608	Hela-S3	cervix:	n/a	n/a
10	MAX	chr19:51728008-51728669	K562	blood:	n/a	n/a
11	POLR2A	chr19:51727944-51728630	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr19:51728033-51728593	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:51727984-51728633	GM12892	blood:	n/a	n/a
14	SPI1	chr19:51728266-51728514	HL-60	blood:	n/a	chr19:51728325-51728332 chr19:51728323-51728336 chr19:51728319-51728332
15	ZBTB7A	chr19:51728155-51728489	K562	blood:	n/a	n/a
16	ELF1	chr19:51728103-51728557	GM12878	blood:	n/a	n/a
17	MYC	chr19:51728174-51728525	NB4	blood:	n/a	n/a
18	ELF1	chr19:51728157-51728434	K562	blood:	n/a	n/a
19	MYC	chr19:51727155-51728508	K562	blood:	n/a	n/a
20	POLR2A	chr19:51727929-51728751	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr19:51728046-51728569	NB4	blood:	n/a	n/a
22	MYC	chr19:51728089-51728586	K562	blood:	n/a	n/a
23	GABPA	chr19:51728129-51728420	GM12878	blood:	n/a	n/a
24	E2F6	chr19:51728168-51728431	K562	blood:	n/a	n/a
25	POLR2A	chr19:51728043-51728768	U87	brain:	n/a	n/a
26	TAF1	chr19:51728088-51728554	K562	blood:	n/a	n/a
27	TAF1	chr19:51728109-51728454	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:51728058-51728488	K562	blood:	n/a	n/a
29	POLR2A	chr19:51728012-51728742	U87	brain:	n/a	n/a
30	MAZ	chr19:51728171-51728503	K562	blood:	n/a	n/a
31	SPI1	chr19:51728226-51728667	HL-60	blood:	n/a	chr19:51728325-51728332 chr19:51728323-51728336 chr19:51728319-51728332
32	UBTF	chr19:51728149-51728462	K562	blood:	n/a	n/a
33	BCLAF1	chr19:51728143-51728388	GM12878	blood:	n/a	n/a
34	SPI1	chr19:51728120-51728483	K562	blood:	n/a	chr19:51728325-51728332 chr19:51728323-51728336 chr19:51728319-51728332
35	RCOR1	chr19:51728168-51728413	K562	blood:	n/a	n/a
36	POLR2A	chr19:51728067-51728491	U87	brain:	n/a	n/a
37	SPI1	chr19:51728106-51728435	GM12878	blood:	n/a	chr19:51728325-51728332 chr19:51728323-51728336 chr19:51728319-51728332
38	STAT2	chr19:51727331-51728523	K562	blood:	n/a	n/a
39	GABPA	chr19:51728174-51728404	GM12878	blood:	n/a	n/a
40	EP300	chr19:51728223-51728427	K562	blood:	n/a	n/a
41	SPI1	chr19:51728111-51728436	GM12891	blood:	n/a	chr19:51728325-51728332 chr19:51728323-51728336 chr19:51728319-51728332
42	HEY1	chr19:51727996-51728574	K562	blood:	n/a	n/a
43	POLR2A	chr19:51727494-51728592	K562	blood:	n/a	n/a
44	POLR2A	chr19:51728023-51728457	GM12892	blood:	n/a	n/a
45	TBP	chr19:51728168-51728519	K562	blood:	n/a	n/a
46	POLR2A	chr19:51728219-51728424	K562	blood:	n/a	n/a
47	UBTF	chr19:51728146-51728643	K562	blood:	n/a	n/a
48	STAT1	chr19:51727332-51728535	K562	blood:	n/a	n/a
49	YY1	chr19:51728166-51728411	GM12892	blood:	n/a	n/a
50	SPI1	chr19:51728155-51728491	K562	blood:	n/a	chr19:51728325-51728332 chr19:51728323-51728336 chr19:51728319-51728332

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51728379-51728429	Hepatocyte	liver:	n/a
2	chr19:51728379-51728429	HUVEC	blood vessel:	n/a
3	chr19:51728379-51728429	K562	blood:	n/a
4	chr19:51728379-51728429	IMR90	lung:	fetal
5	chr19:51728379-51728429	AG09319	gingival:	n/a
6	chr19:51728379-51728429	AG04449	skin:	fetal
7	chr19:51728379-51728429	LNCaP	prostate:	n/a
8	chr19:51728379-51728429	NHBE	bronchial:	n/a
9	chr19:51728379-51728429	Jurkat	blood:	n/a
10	chr19:51728379-51728429	HRE	kidney:	n/a
11	chr19:51728379-51728429	U87	brain:	n/a
12	chr19:51728379-51728429	PrEC	prostate:	n/a
13	chr19:51728379-51728429	SK-N-MC	brain:	n/a
14	chr19:51728379-51728429	HEK293	kidney:	embryo
15	chr19:51728379-51728429	H1-hESC	embryonic stem cell:	embryo
16	chr19:51728379-51728429	GM19239	blood:	n/a
17	chr19:51728379-51728429	MCF10A-Er-Src	breast:	n/a
18	chr19:51728379-51728429	SK-N-SH	brain:	n/a
19	chr19:51728379-51728429	HRPEpiC	eye:	n/a
20	chr19:51728379-51728429	HL-60	blood:	n/a
21	chr19:51728379-51728429	AG09309	skin:	n/a
22	chr19:51728379-51728429	CMK	blood:	n/a
23	chr19:51728379-51728429	ECC-1	luminal epithelium:	n/a
24	chr19:51728379-51728429	HEEpiC	esophagus:	n/a
25	chr19:51728379-51728429	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:51728379-51728429	PFSK-1	brain:	n/a
27	chr19:51728379-51728429	HRCEpiC	kidney:	n/a
28	chr19:51728379-51728429	GM06990	blood:	n/a
29	chr19:51728379-51728429	SAEC	small airway:	n/a
30	chr19:51728379-51728429	NH-A	brain:	n/a
31	chr19:51728379-51728429	NB4	blood:	n/a
32	chr19:51728379-51728429	Hela-S3	cervix:	n/a
33	chr19:51728379-51728429	AoSMC	blood vessel:	n/a
34	chr19:51728379-51728429	PANC-1	pancreas:	n/a
35	chr19:51728379-51728429	HCT-116	colon:	n/a
36	chr19:51728379-51728429	AG04450	lung:	fetal
37	chr19:51728379-51728429	Caco-2	colon:	n/a
38	chr19:51728379-51728429	SK-N-SH_RA	brain:	n/a
39	chr19:51728379-51728429	GM12892	blood:	n/a
40	chr19:51728379-51728429	HCM	heart:	n/a
41	chr19:51728379-51728429	HMEC	breast:	n/a
42	chr19:51728379-51728429	GM12891	blood:	n/a
43	chr19:51728379-51728429	HCPEpiC	choroid plexus:	n/a
44	chr19:51728379-51728429	T-47D	breast:	n/a
45	chr19:51728379-51728429	NHDF-neo	bronchial:	n/a
46	chr19:51728379-51728429	GM12878	blood:	n/a
47	chr19:51728379-51728429	HIPEpiC	eye:	n/a
48	chr19:51728379-51728429	ovcar-3	ovarian:	n/a
49	chr19:51728379-51728429	NT2-D1	testis:	n/a
50	chr19:51728379-51728429	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
CD33	TF binding region
CD33	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61731260	1.00[AFR][1000 genomes]
rs61736476	1.00[AFR][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51715400-51729200	Weak transcription	Spleen	Spleen
2	chr19:51727200-51728800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr19:51727400-51729800	Flanking Active TSS	K562	blood
4	chr19:51727600-51732800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr19:51727800-51729600	Active TSS	Hela-S3	cervix
6	chr19:51728000-51728400	Enhancers	Primary hematopoietic stem cells	blood
7	chr19:51728000-51728400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:51728000-51728400	Bivalent Enhancer	Placenta	Placenta
9	chr19:51728000-51729600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:51728000-51729600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:51728000-51729600	Enhancers	Fetal Thymus	thymus
12	chr19:51728200-51728800	Active TSS	Primary monocytes fromperipheralblood	blood
13	chr19:51728200-51729600	Active TSS	Duodenum Mucosa	Duodenum
14	chr19:51728200-51730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:51728200-51731400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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