Variant report

Variant	rs2822902
Chromosome Location	chr21:16125925-16125926
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	IRF1	chr21:16123418-16127931	K562	blood:	n/a	n/a
2	POLR2A	chr21:16125465-16126604	K562	blood:	n/a	n/a
3	MAX	chr21:16125734-16126500	K562	blood:	n/a	n/a
4	TBL1XR1	chr21:16125832-16126637	K562	blood:	n/a	n/a
5	TEAD4	chr21:16125908-16126715	K562	blood:	n/a	n/a
6	STAT2	chr21:16125763-16126595	K562	blood:	n/a	n/a
7	EP300	chr21:16123999-16128837	K562	blood:	n/a	chr21:16124804-16124818 chr21:16125052-16125066 chr21:16124948-16124962 chr21:16125293-16125303 chr21:16124761-16124775 chr21:16124954-16124968
8	POLR2A	chr21:16125706-16126487	K562	blood:	n/a	n/a
9	TBL1XR1	chr21:16124056-16127914	K562	blood:	n/a	n/a
10	HEY1	chr21:16125690-16126410	K562	blood:	n/a	n/a
11	UBTF	chr21:16125686-16126634	K562	blood:	n/a	n/a
12	POLR2A	chr21:16124304-16127927	K562	blood:	n/a	n/a
13	MAFK	chr21:16125700-16126599	K562	blood:	n/a	n/a
14	MYC	chr21:16125647-16126727	K562	blood:	n/a	n/a
15	POLR2A	chr21:16111919-16132315	K562	blood:	n/a	n/a
16	TBP	chr21:16125915-16126629	K562	blood:	n/a	n/a
17	RCOR1	chr21:16125595-16126729	K562	blood:	n/a	n/a
18	STAT1	chr21:16125906-16126546	K562	blood:	n/a	n/a
19	MYC	chr21:16125677-16126854	K562	blood:	n/a	n/a
20	STAT5A	chr21:16125828-16126686	K562	blood:	n/a	n/a
21	POLR2A	chr21:16125402-16126675	K562	blood:	n/a	n/a
22	POLR2A	chr21:16124179-16128571	K562	blood:	n/a	n/a
23	JUND	chr21:16125723-16127802	K562	blood:	n/a	n/a
24	SMC3	chr21:16125923-16126445	K562	blood:	n/a	n/a
25	CUX1	chr21:16125426-16126489	K562	blood:	n/a	n/a
26	GATA2	chr21:16125909-16126594	K562	blood:	n/a	n/a
27	POLR2A	chr21:16124419-16126544	PBDE	blood:	n/a	n/a
28	GATA1	chr21:16124276-16127738	PBDE	blood:	n/a	chr21:16124907-16124917 chr21:16124789-16124806 chr21:16124757-16124768 chr21:16125253-16125264 chr21:16124875-16124885
29	TAL1	chr21:16125778-16126786	K562	blood:	n/a	n/a
30	ZNF384	chr21:16125869-16126490	K562	blood:	n/a	n/a
31	HMGN3	chr21:16125709-16126521	K562	blood:	n/a	n/a
32	POLR2A	chr21:16125734-16127038	K562	blood:	n/a	n/a
33	GATA1	chr21:16123409-16131660	K562	blood:	n/a	chr21:16124907-16124917 chr21:16124789-16124806 chr21:16124757-16124768 chr21:16125253-16125264 chr21:16124875-16124885
34	CCNT2	chr21:16125744-16126636	K562	blood:	n/a	n/a
35	SPI1	chr21:16125771-16125981	K562	blood:	n/a	n/a
36	ZNF143	chr21:16125840-16126618	K562	blood:	n/a	n/a
37	MAX	chr21:16125486-16126560	K562	blood:	n/a	n/a
38	MAZ	chr21:16125752-16126668	K562	blood:	n/a	n/a
39	PML	chr21:16125898-16126640	K562	blood:	n/a	n/a
40	ARID3A	chr21:16125891-16126806	K562	blood:	n/a	n/a
41	BHLHE40	chr21:16125871-16126608	K562	blood:	n/a	n/a
42	JUN	chr21:16125365-16126721	K562	blood:	n/a	n/a
43	IRF1	chr21:16124018-16128861	K562	blood:	n/a	n/a
44	TEAD4	chr21:16125491-16126815	K562	blood:	n/a	n/a
45	MYC	chr21:16125703-16126675	K562	blood:	n/a	n/a
46	POLR2A	chr21:16124249-16127902	K562	blood:	n/a	n/a
47	POLR2A	chr21:16123269-16128381	K562	blood:	n/a	n/a
48	TRIM28	chr21:16125922-16126663	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:16125155..16127761-chr21:16129688..16131759,3	K562	blood:
2	chr21:15916860..15919721-chr21:16123639..16127207,4	K562	blood:
3	chr21:15916876..15918776-chr21:16125268..16127207,2	K562	blood:

Variant related genes	Relation type
POLR2CP	TF binding region
ENSG00000232884	TF binding region
ENSG00000155307	Chromatin interaction
ENSG00000228600	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1556282	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1882871	0.85[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs1882872	0.85[CEU][hapmap];0.89[CHB][hapmap];0.85[EUR][1000 genomes]
rs1882873	0.95[CHB][hapmap];0.81[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1882874	0.85[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs2142229	0.84[EUR][1000 genomes]
rs2178897	0.84[EUR][1000 genomes]
rs2403805	0.86[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs2822891	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822892	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822894	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822897	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822900	0.84[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs2822903	0.89[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs2822905	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2822906	0.81[EUR][1000 genomes]
rs36073527	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56216385	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7275532	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7275790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7275823	0.88[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs7277937	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280121	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs7280294	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs7281062	0.84[EUR][1000 genomes]
rs7282883	0.85[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs7283943	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs8130955	0.85[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs8133806	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8134576	0.88[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs954825	0.83[EUR][1000 genomes]
rs954826	0.80[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs9636594	0.84[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9636595	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs9636841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9636842	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9636843	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs9647058	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs9983631	0.89[CEU][hapmap];0.83[CHB][hapmap];0.86[EUR][1000 genomes]

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16124400-16126600	Flanking Active TSS	Dnd41	blood
2	chr21:16124800-16126600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr21:16125000-16133000	Weak transcription	Primary B cells from cord blood	blood
4	chr21:16125600-16126400	Enhancers	Adipose Nuclei	Adipose
5	chr21:16125600-16126800	Flanking Active TSS	K562	blood
6	chr21:16125800-16126000	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:16125800-16126000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr21:16125800-16126200	Active TSS	Colonic Mucosa	Colon
9	chr21:16125800-16126200	Enhancers	Fetal Thymus	thymus
10	chr21:16125800-16126400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:16125800-16126400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr21:16125800-16126400	Enhancers	Pancreas	Pancrea
13	chr21:16125800-16126400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr21:16125800-16127000	Enhancers	GM12878-XiMat	blood

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