Variant report

Variant	rs557311328
Chromosome Location	chr21:15954379-15954380
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	TEAD4	chr21:15954126-15954824	K562	blood:	n/a	n/a
2	CEBPD	chr21:15954116-15954735	K562	blood:	n/a	n/a
3	GATA2	chr21:15954214-15954608	K562	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
4	TBP	chr21:15954305-15954672	K562	blood:	n/a	n/a
5	CEBPD	chr21:15954148-15954694	K562	blood:	n/a	n/a
6	PML	chr21:15954159-15954687	K562	blood:	n/a	n/a
7	EP300	chr21:15954130-15954885	K562	blood:	n/a	chr21:15954427-15954434
8	POLR2A	chr21:15954322-15954775	K562	blood:	n/a	n/a
9	GATA2	chr21:15954273-15954717	K562	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
10	CUX1	chr21:15954096-15954815	K562	blood:	n/a	n/a
11	IRF1	chr21:15954007-15955056	K562	blood:	n/a	n/a
12	MYC	chr21:15954258-15954985	K562	blood:	n/a	n/a
13	ELF1	chr21:15954362-15954609	K562	blood:	n/a	n/a
14	RCOR1	chr21:15954199-15954835	K562	blood:	n/a	n/a
15	TAL1	chr21:15954274-15954759	K562	blood:	n/a	n/a
16	MAX	chr21:15954311-15954771	K562	blood:	n/a	n/a
17	JUN	chr21:15953895-15954975	K562	blood:	n/a	chr21:15954965-15954974
18	UBTF	chr21:15954308-15954729	K562	blood:	n/a	n/a
19	MAX	chr21:15954323-15954753	K562	blood:	n/a	n/a
20	ZMIZ1	chr21:15954245-15954608	K562	blood:	n/a	n/a
21	EP300	chr21:15954335-15954742	GM12878	blood:	n/a	chr21:15954427-15954434
22	POLR2A	chr21:15954345-15954766	K562	blood:	n/a	n/a
23	HMGN3	chr21:15954061-15954742	K562	blood:	n/a	chr21:15954419-15954426
24	GATA2	chr21:15954149-15954619	K562	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
25	GATA1	chr21:15954172-15955748	PBDE	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
26	ARID3A	chr21:15954023-15954811	K562	blood:	n/a	n/a
27	HEY1	chr21:15954310-15954782	K562	blood:	n/a	n/a
28	ZC3H11A	chr21:15954162-15954742	K562	blood:	n/a	n/a
29	POLR2A	chr21:15954334-15954649	K562	blood:	n/a	n/a
30	JUND	chr21:15954191-15954772	K562	blood:	n/a	n/a
31	GATA1	chr21:15953823-15957711	K562	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15956379-15956388 chr21:15954420-15954427
32	JUN	chr21:15954000-15954845	K562	blood:	n/a	n/a
33	CCNT2	chr21:15954161-15954740	K562	blood:	n/a	n/a
34	TEAD4	chr21:15954169-15954625	K562	blood:	n/a	n/a
35	MYC	chr21:15954105-15954897	K562	blood:	n/a	n/a
36	TBL1XR1	chr21:15954090-15954785	K562	blood:	n/a	n/a
37	GATA2	chr21:15954300-15954637	HUVEC	blood vessel:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
38	MAZ	chr21:15954269-15954703	K562	blood:	n/a	n/a
39	IRF1	chr21:15954140-15955102	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15916155..15921451-chr21:15952417..15958327,11	K562	blood:

Variant related genes	Relation type
SAMSN1-AS1	TF binding region
ENSG00000155307	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470879	chr21:15946828-15964278	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv587049	chr21:15954103-15962331	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15953400-15954400	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr21:15953400-15954800	Enhancers	Dnd41	blood
3	chr21:15953600-15954400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr21:15954000-15954600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr21:15954000-15954800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr21:15954000-15955000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:15954200-15954600	Active TSS	Primary T cells fromperipheralblood	blood
8	chr21:15954200-15954600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:15954200-15954800	Enhancers	Primary T cells from cord blood	blood
10	chr21:15954200-15954800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr21:15954200-15954800	Flanking Active TSS	K562	blood

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