Variant report

Variant	rs7280294
Chromosome Location	chr21:16127530-16127531
allele	A/G
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	JUN	chr21:16127270-16127881	K562	blood:	n/a	n/a
2	IRF1	chr21:16123418-16127931	K562	blood:	n/a	n/a
3	KAP1	chr21:16127037-16127532	K562	blood:	n/a	n/a
4	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
5	TBL1XR1	chr21:16124056-16127914	K562	blood:	n/a	n/a
6	POLR2A	chr21:16124304-16127927	K562	blood:	n/a	n/a
7	SPI1	chr21:16127489-16127646	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:16111919-16132315	K562	blood:	n/a	n/a
9	TEAD4	chr21:16127150-16127875	K562	blood:	n/a	n/a
10	BHLHE40	chr21:16127392-16127782	K562	blood:	n/a	n/a
11	SPI1	chr21:16127445-16127799	K562	blood:	n/a	n/a
12	SPI1	chr21:16127494-16127761	GM12891	blood:	n/a	n/a
13	UBTF	chr21:16127494-16127812	K562	blood:	n/a	n/a
14	POLR2A	chr21:16124179-16128571	K562	blood:	n/a	n/a
15	JUND	chr21:16125723-16127802	K562	blood:	n/a	n/a
16	ARID3A	chr21:16127322-16127905	K562	blood:	n/a	n/a
17	GATA1	chr21:16124276-16127738	PBDE	blood:	n/a	chr21:16124907-16124917 chr21:16124789-16124806 chr21:16124757-16124768 chr21:16125253-16125264 chr21:16124875-16124885
18	UBTF	chr21:16127239-16127904	K562	blood:	n/a	n/a
19	ELF1	chr21:16127499-16127833	K562	blood:	n/a	n/a
20	GATA1	chr21:16123409-16131660	K562	blood:	n/a	chr21:16124907-16124917 chr21:16124789-16124806 chr21:16124757-16124768 chr21:16125253-16125264 chr21:16124875-16124885
21	RCOR1	chr21:16127308-16127818	K562	blood:	n/a	n/a
22	MAZ	chr21:16127491-16127812	K562	blood:	n/a	n/a
23	IRF1	chr21:16124018-16128861	K562	blood:	n/a	n/a
24	POLR2A	chr21:16124249-16127902	K562	blood:	n/a	n/a
25	POLR2A	chr21:16123269-16128381	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:16126182..16127786-chr21:16135069..16137449,2	K562	blood:
2	chr21:16125155..16127761-chr21:16129688..16131759,3	K562	blood:
3	chr21:16053123..16056103-chr21:16127212..16129572,2	K562	blood:

Variant related genes	Relation type
POLR2CP	TF binding region
ENSG00000232884	TF binding region
ENSG00000228600	Chromatin interaction
ENSG00000226751	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1556282	0.83[EUR][1000 genomes]
rs1882871	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882872	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882873	0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs1882874	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2142229	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2178897	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403805	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2822891	0.80[CEU][hapmap];0.89[CHB][hapmap];0.85[EUR][1000 genomes]
rs2822892	0.80[CEU][hapmap];0.88[CHB][hapmap];0.85[EUR][1000 genomes]
rs2822894	0.81[CEU][hapmap];0.89[CHB][hapmap];0.85[EUR][1000 genomes]
rs2822897	0.86[EUR][1000 genomes]
rs2822900	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822902	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs2822903	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822905	0.81[EUR][1000 genomes]
rs2822906	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34043521	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36073527	0.84[EUR][1000 genomes]
rs56216385	0.83[EUR][1000 genomes]
rs7275532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7275790	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs7275823	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277937	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs7280121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7281062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7282883	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7283842	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7283843	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7283943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8130955	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8133806	0.85[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs8134576	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs954825	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs954826	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9636594	0.84[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs9636595	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9636841	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs9636842	0.87[EUR][1000 genomes]
rs9636843	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9647058	0.86[EUR][1000 genomes]
rs9977329	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983631	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16125000-16133000	Weak transcription	Primary B cells from cord blood	blood
2	chr21:16126400-16135200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr21:16126600-16128200	Enhancers	Dnd41	blood
4	chr21:16127400-16127600	Transcr. at gene 5' and 3'	K562	blood

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