Variant report

Variant	rs6553000
Chromosome Location	chr4:187421850-187421851
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	MAX	chr4:187421837-187422381	K562	blood:	n/a	n/a
2	TAF1	chr4:187421824-187422544	K562	blood:	n/a	n/a
3	POLR2A	chr4:187421813-187423037	K562	blood:	n/a	n/a
4	MAX	chr4:187421814-187422503	K562	blood:	n/a	n/a
5	POLR2A	chr4:187421797-187423019	K562	blood:	n/a	n/a
6	MYC	chr4:187421814-187422537	K562	blood:	n/a	n/a
7	TAF1	chr4:187421831-187422365	K562	blood:	n/a	n/a
8	IRF1	chr4:187421818-187422717	K562	blood:	n/a	chr4:187422157-187422171 chr4:187422520-187422534
9	CBX3	chr4:187421797-187422410	K562	blood:	n/a	n/a
10	YY1	chr4:187421809-187422639	ECC-1	luminal epithelium:	n/a	n/a
11	IRF1	chr4:187421780-187422517	K562	blood:	n/a	chr4:187422157-187422171
12	TBL1XR1	chr4:187421739-187422536	K562	blood:	n/a	n/a
13	PML	chr4:187421710-187422568	K562	blood:	n/a	n/a
14	MYC	chr4:187421693-187422687	K562	blood:	n/a	n/a
15	SPI1	chr4:187421829-187421993	K562	blood:	n/a	chr4:187421903-187421916 chr4:187421906-187421913 chr4:187421902-187421915
16	YY1	chr4:187421818-187422521	ECC-1	luminal epithelium:	n/a	n/a
17	TBP	chr4:187421683-187422623	K562	blood:	n/a	n/a
18	MYC	chr4:187421720-187422643	K562	blood:	n/a	n/a
19	POLR2A	chr4:187421803-187422479	K562	blood:	n/a	n/a
20	POLR2A	chr4:187421785-187423169	K562	blood:	n/a	n/a
21	PML	chr4:187421796-187422575	K562	blood:	n/a	n/a
22	USF1	chr4:187421746-187422332	K562	blood:	n/a	n/a
23	CUX1	chr4:187421750-187422307	K562	blood:	n/a	n/a
24	HEY1	chr4:187421769-187422774	K562	blood:	n/a	n/a
25	ZNF384	chr4:187421658-187422485	K562	blood:	n/a	n/a
26	TEAD4	chr4:187421703-187422770	K562	blood:	n/a	n/a
27	CREB1	chr4:187421785-187422476	K562	blood:	n/a	n/a
28	MAX	chr4:187421705-187422864	K562	blood:	n/a	n/a
29	POLR2A	chr4:187421712-187422651	SK-N-MC	brain:	n/a	n/a
30	RCOR1	chr4:187421725-187422471	K562	blood:	n/a	n/a
31	CEBPB	chr4:187421769-187422320	K562	blood:	n/a	n/a
32	POLR2A	chr4:187421742-187422960	K562	blood:	n/a	n/a
33	MAX	chr4:187421711-187422527	K562	blood:	n/a	n/a
34	HEY1	chr4:187421800-187422488	K562	blood:	n/a	n/a
35	MAX	chr4:187421686-187422711	ECC-1	luminal epithelium:	n/a	n/a
36	CREB1	chr4:187421833-187422456	K562	blood:	n/a	n/a
37	MYC	chr4:187421739-187422610	K562	blood:	n/a	n/a
38	CBX3	chr4:187421712-187422622	K562	blood:	n/a	n/a
39	NR2F2	chr4:187421726-187422515	K562	blood:	n/a	n/a
40	EP300	chr4:187421837-187422413	K562	blood:	n/a	chr4:187422381-187422390
41	BHLHE40	chr4:187421756-187422525	K562	blood:	n/a	n/a
42	YY1	chr4:187421804-187422524	K562	blood:	n/a	n/a
43	EGR1	chr4:187421807-187422379	K562	blood:	n/a	chr4:187422161-187422171
44	POLR2A	chr4:187421808-187422628	K562	blood:	n/a	n/a
45	MAX	chr4:187421802-187422568	MCF-7	breast:	n/a	n/a
46	TRIM28	chr4:187421728-187422448	K562	blood:	n/a	n/a
47	E2F6	chr4:187421804-187422088	K562	blood:	n/a	n/a
48	USF1	chr4:187421828-187422398	ECC-1	luminal epithelium:	n/a	n/a
49	USF1	chr4:187421788-187422465	ECC-1	luminal epithelium:	n/a	n/a
50	ETS1	chr4:187421807-187422457	K562	blood:	n/a	chr4:187422383-187422394 chr4:187422382-187422391 chr4:187422381-187422394 chr4:187421907-187421914

Variant related genes	Relation type
RNU6-1055P	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1867069	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2001362	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6553001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6847693	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1023052	chr4:187244679-187534428	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1016739	chr4:187249894-187534428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2757972	chr4:187261330-187422342	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759310	chr4:187261330-187422342	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv461866	chr4:187262489-187529904	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv596417	chr4:187262489-187529904	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1022113	chr4:187268460-187534065	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1024953	chr4:187332658-187525542	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv537435	chr4:187332658-187525542	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1016261	chr4:187332658-187564927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv537436	chr4:187332658-187564927	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1027771	chr4:187361404-187431973	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1015939	chr4:187388958-187454620	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1030319	chr4:187390680-187424564	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1023427	chr4:187392594-187454677	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv525719	chr4:187411297-187521037	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187421000-187433400	Weak transcription	Fetal Brain Male	brain
2	chr4:187421200-187422000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:187421200-187422600	Active TSS	K562	blood
4	chr4:187421800-187422600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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