Variant report

Variant	rs9636819
Chromosome Location	chr21:15954504-15954505
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	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	MXI1	chr21:15954492-15954534	GM12878	blood:	n/a	n/a
10	GTF2B	chr21:15954425-15954669	K562	blood:	n/a	n/a
11	GATA2	chr21:15954273-15954717	K562	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
12	CUX1	chr21:15954096-15954815	K562	blood:	n/a	n/a
13	IRF1	chr21:15954007-15955056	K562	blood:	n/a	n/a
14	MYC	chr21:15954258-15954985	K562	blood:	n/a	n/a
15	ELF1	chr21:15954362-15954609	K562	blood:	n/a	n/a
16	RCOR1	chr21:15954199-15954835	K562	blood:	n/a	n/a
17	TAL1	chr21:15954274-15954759	K562	blood:	n/a	n/a
18	MAX	chr21:15954311-15954771	K562	blood:	n/a	n/a
19	JUN	chr21:15953895-15954975	K562	blood:	n/a	chr21:15954965-15954974
20	UBTF	chr21:15954308-15954729	K562	blood:	n/a	n/a
21	MAX	chr21:15954323-15954753	K562	blood:	n/a	n/a
22	ZMIZ1	chr21:15954245-15954608	K562	blood:	n/a	n/a
23	EP300	chr21:15954335-15954742	GM12878	blood:	n/a	chr21:15954427-15954434
24	POLR2A	chr21:15954345-15954766	K562	blood:	n/a	n/a
25	HMGN3	chr21:15954061-15954742	K562	blood:	n/a	chr21:15954419-15954426
26	GATA2	chr21:15954149-15954619	K562	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
27	MYC	chr21:15954484-15954521	K562	blood:	n/a	n/a
28	GATA1	chr21:15954172-15955748	PBDE	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
29	ARID3A	chr21:15954023-15954811	K562	blood:	n/a	n/a
30	HEY1	chr21:15954310-15954782	K562	blood:	n/a	n/a
31	ZC3H11A	chr21:15954162-15954742	K562	blood:	n/a	n/a
32	POLR2A	chr21:15954334-15954649	K562	blood:	n/a	n/a
33	JUND	chr21:15954191-15954772	K562	blood:	n/a	n/a
34	GATA1	chr21:15953823-15957711	K562	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15956379-15956388 chr21:15954420-15954427
35	JUN	chr21:15954000-15954845	K562	blood:	n/a	n/a
36	CCNT2	chr21:15954161-15954740	K562	blood:	n/a	n/a
37	TEAD4	chr21:15954169-15954625	K562	blood:	n/a	n/a
38	MYC	chr21:15954105-15954897	K562	blood:	n/a	n/a
39	TBL1XR1	chr21:15954090-15954785	K562	blood:	n/a	n/a
40	GATA2	chr21:15954300-15954637	HUVEC	blood vessel:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15954420-15954427
41	MAZ	chr21:15954269-15954703	K562	blood:	n/a	n/a
42	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:12 , 50 per page) page: 1

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

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