Variant report

Variant	rs55700391
Chromosome Location	chr21:46102209-46102210
allele	C/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	RCOR1	chr21:46102169-46102727	K562	blood:	n/a	n/a
2	FOS	chr21:46102140-46102369	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr21:46102155-46102355	MCF10A-Er-Src	breast:	n/a	chr21:46102187-46102196 chr21:46102184-46102198 chr21:46102186-46102195
4	TAL1	chr21:46102157-46102429	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46096720..46098322-chr21:46101281..46103143,2	K562	blood:

Variant related genes	Relation type
KRTAP12-1	TF binding region
IMMTP1	TF binding region
ENSG00000229880	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12329668	1.00[ASN][1000 genomes]
rs17211921	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17213734	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17213972	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17284014	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17284056	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17284167	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285096	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285396	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285466	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285795	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17286075	0.94[EUR][1000 genomes]
rs2329891	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329896	1.00[ASN][1000 genomes]
rs2838628	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28658387	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36091286	1.00[ASN][1000 genomes]
rs4401291	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805293	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830574	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877354	0.80[EUR][1000 genomes]
rs55881656	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55929251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962178	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56008135	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56019874	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56135164	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138130	1.00[ASN][1000 genomes]
rs56277017	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56310126	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59742230	1.00[ASN][1000 genomes]
rs60533424	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233077	1.00[ASN][1000 genomes]
rs73233084	1.00[ASN][1000 genomes]
rs73233088	1.00[ASN][1000 genomes]
rs73233095	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233102	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234804	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234823	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234825	1.00[ASN][1000 genomes]
rs73234826	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234827	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234828	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234830	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234831	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234832	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234833	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234834	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234835	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234850	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234870	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875125	1.00[ASN][1000 genomes]
rs9978068	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46094200-46106800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:46098200-46104600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46101000-46122200	Weak transcription	Right Atrium	heart
4	chr21:46102000-46102800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr21:46102200-46102400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:46102200-46103000	Bivalent Enhancer	K562	blood

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