Variant report

Variant	rs9636594
Chromosome Location	chr21:16128671-16128672
allele	G/T
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	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
2	CUX1	chr21:16128314-16128973	K562	blood:	n/a	n/a
3	POLR2A	chr21:16111919-16132315	K562	blood:	n/a	n/a
4	ARID3A	chr21:16128367-16128902	K562	blood:	n/a	n/a
5	IRF1	chr21:16128196-16129470	K562	blood:	n/a	n/a
6	GATA1	chr21:16123409-16131660	K562	blood:	n/a	chr21:16124907-16124917 chr21:16124789-16124806 chr21:16124757-16124768 chr21:16125253-16125264 chr21:16124875-16124885
7	RFX5	chr21:16128515-16128683	K562	blood:	n/a	n/a
8	IRF1	chr21:16124018-16128861	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16123411..16124918-chr21:16127561..16129848,2	K562	blood:
2	chr21:16053123..16056103-chr21:16127212..16129572,2	K562	blood:

Variant related genes	Relation type
ENSG00000232884	TF binding region
POLR2CP	TF binding region

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

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

rs_ID	r²[population]
rs1556282	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1882871	0.80[CHB][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs1882872	0.80[CHB][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs1882873	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1882874	0.80[CHB][hapmap];0.86[EUR][1000 genomes]
rs2142229	0.86[EUR][1000 genomes]
rs2178897	0.86[EUR][1000 genomes]
rs2403805	0.80[CHB][hapmap];0.86[EUR][1000 genomes]
rs2822891	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2822892	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2822894	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2822895	0.84[CHD][hapmap];0.80[MEX][hapmap]
rs2822897	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2822900	0.80[CHB][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs2822902	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]
rs2822903	0.80[CHB][hapmap];0.82[EUR][1000 genomes]
rs2822905	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2822906	0.83[EUR][1000 genomes]
rs36073527	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56216385	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7275532	0.88[CHB][hapmap]
rs7275790	0.87[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7275823	0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs7277937	0.91[CEU][hapmap];0.90[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7280121	0.89[CHB][hapmap];0.86[EUR][1000 genomes]
rs7280294	0.84[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs7281062	0.85[EUR][1000 genomes]
rs7282883	0.80[CHB][hapmap];0.86[EUR][1000 genomes]
rs7283842	0.81[EUR][1000 genomes]
rs7283843	0.81[EUR][1000 genomes]
rs7283943	0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs8130955	0.80[CHB][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs8133806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8134576	0.80[CHB][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs954825	0.85[EUR][1000 genomes]
rs954826	0.80[CHB][hapmap];0.82[EUR][1000 genomes]
rs9636595	0.89[CHB][hapmap];0.86[EUR][1000 genomes]
rs9636841	0.84[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9636842	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9636843	0.89[CHB][hapmap];0.86[EUR][1000 genomes]
rs9647058	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9977329	0.84[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs9983631	0.82[EUR][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	chr21:16127600-16128800	Active TSS	K562	blood
4	chr21:16128200-16133200	Weak transcription	Dnd41	blood

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