Variant report

Variant	rs2822927
Chromosome Location	chr21:16146156-16146157
allele	A/C
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	MYC	chr21:16146131-16146331	MCF10A-Er-Src	breast:	n/a	n/a
2	RCOR1	chr21:16146154-16146390	K562	blood:	n/a	n/a
3	JUN	chr21:16146131-16146455	K562	blood:	n/a	n/a
4	ATF1	chr21:16146134-16146393	K562	blood:	n/a	n/a
5	CTCF	chr21:16146103-16146407	HepG2	liver:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
6	CTCF	chr21:16146146-16146430	Pancreas_OC	pancreas:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
7	CTCF	chr21:16146144-16146385	ECC-1	luminal epithelium:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
8	MYC	chr21:16146056-16146441	K562	blood:	n/a	n/a
9	CTCF	chr21:16145988-16146530	MCF-7	breast:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
10	CTCF	chr21:16146140-16146290	HEK293	kidney:	n/a	n/a
11	CTCF	chr21:16146087-16146487	GM12878	blood:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
12	TBL1XR1	chr21:16146093-16146460	K562	blood:	n/a	n/a
13	RAD21	chr21:16146075-16146585	MCF-7	breast:	n/a	chr21:16146274-16146293
14	RAD21	chr21:16146103-16146473	A549	lung:	n/a	chr21:16146274-16146293
15	ELK1	chr21:16146145-16146345	GM12878	blood:	n/a	n/a
16	SMC3	chr21:16146070-16146523	SK-N-SH	brain:	n/a	chr21:16146278-16146292
17	EP300	chr21:16146040-16146445	K562	blood:	n/a	n/a
18	CTCF	chr21:16146126-16146474	H1-hESC	embryonic stem cell:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
19	CUX1	chr21:16145915-16146351	K562	blood:	n/a	n/a
20	TCF12	chr21:16146146-16146302	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr21:16146105-16146453	GM12878	blood:	n/a	n/a
22	RAD21	chr21:16146070-16146479	GM12878	blood:	n/a	chr21:16146274-16146293
23	RAD21	chr21:16146087-16146465	GM12878	blood:	n/a	chr21:16146274-16146293
24	RAD21	chr21:16145951-16146469	H1-hESC	embryonic stem cell:	n/a	chr21:16146274-16146293
25	RAD21	chr21:16145937-16146415	H1-hESC	embryonic stem cell:	n/a	chr21:16146274-16146293
26	CTCF	chr21:16146062-16146554	K562	blood:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
27	TBP	chr21:16146144-16146345	K562	blood:	n/a	n/a
28	SMC3	chr21:16146079-16146534	GM12878	blood:	n/a	chr21:16146278-16146292
29	ARID3A	chr21:16146123-16146445	K562	blood:	n/a	n/a
30	RAD21	chr21:16146054-16146466	MCF-7	breast:	n/a	chr21:16146274-16146293
31	IRF1	chr21:16146110-16146455	K562	blood:	n/a	n/a
32	RAD21	chr21:16146087-16146553	HCT-116	colon:	n/a	chr21:16146274-16146293
33	RAD21	chr21:16146078-16146514	ECC-1	luminal epithelium:	n/a	chr21:16146274-16146293
34	CTCF	chr21:16146154-16146373	GM19238	blood:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
35	RAD21	chr21:16146052-16146390	A549	lung:	n/a	chr21:16146274-16146293
36	RAD21	chr21:16146111-16146374	GM12878	blood:	n/a	chr21:16146274-16146293
37	MAFK	chr21:16146099-16146399	K562	blood:	n/a	n/a
38	CTCF	chr21:16146130-16146364	H1-hESC	embryonic stem cell:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
39	MYC	chr21:16145841-16146483	K562	blood:	n/a	n/a
40	CTCF	chr21:16146108-16146522	K562	blood:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
41	CTCF	chr21:16146039-16146445	HCT-116	colon:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
42	BHLHE40	chr21:16146126-16146511	GM12878	blood:	n/a	n/a
43	CTCF	chr21:16146140-16146290	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr21:16146138-16146406	MCF-7	breast:	n/a	chr21:16146277-16146293 chr21:16146271-16146292 chr21:16146276-16146294 chr21:16146278-16146291
45	MYC	chr21:16146135-16146433	NB4	blood:	n/a	n/a
46	RAD21	chr21:16146122-16146364	IMR90	lung:	n/a	chr21:16146274-16146293
47	RAD21	chr21:16146122-16146432	K562	blood:	n/a	chr21:16146274-16146293
48	CTCF	chr21:16146140-16146290	HVMF	connective:	n/a	n/a
49	RAD21	chr21:16146066-16146525	HCT-116	colon:	n/a	chr21:16146274-16146293
50	RAD21	chr21:16146027-16146492	HepG2	liver:	n/a	chr21:16146274-16146293

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16143951..16146224-chr21:16159304..16162772,3	K562	blood:
2	chr21:16144518..16147487-chr21:16436685..16438487,2	MCF-7	breast:

Variant related genes	Relation type
GAPDHP16	TF binding region
ENSG00000180530	Chromatin interaction

rs_ID	r²[population]
rs11909551	1.00[CEU][hapmap]
rs12053660	1.00[CEU][hapmap]
rs13048782	1.00[CEU][hapmap]
rs13048847	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs13052074	1.00[CEU][hapmap]
rs13052551	0.83[CEU][hapmap]
rs2011512	1.00[CEU][hapmap]
rs2064006	0.82[YRI][hapmap]
rs2103467	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs2822918	0.91[YRI][hapmap]
rs2822923	1.00[CEU][hapmap]
rs2822924	0.92[CEU][hapmap]
rs2822929	1.00[CEU][hapmap]
rs2822959	0.92[CEU][hapmap]
rs4817379	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs7277621	0.92[CEU][hapmap]
rs7277958	1.00[CEU][hapmap]
rs7281621	0.92[CEU][hapmap]
rs8132509	1.00[CEU][hapmap]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16143400-16146200	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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