Variant report

Variant	rs189527942
Chromosome Location	chr1:153045541-153045542
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	GATA2	chr1:153045259-153045720	K562	blood:	n/a	chr1:153045389-153045399 chr1:153045390-153045397 chr1:153045390-153045399
2	GATA1	chr1:153045339-153046558	PBDE	blood:	n/a	chr1:153045389-153045399 chr1:153046361-153046371 chr1:153045830-153045841 chr1:153045390-153045397 chr1:153045390-153045399
3	ARID3A	chr1:153045341-153045614	K562	blood:	n/a	n/a
4	TBL1XR1	chr1:153045334-153045987	K562	blood:	n/a	n/a
5	CEBPB	chr1:153045498-153045761	K562	blood:	n/a	n/a
6	SPI1	chr1:153045322-153045643	K562	blood:	n/a	n/a
7	SPI1	chr1:153045334-153045594	HL-60	blood:	n/a	n/a
8	ATF1	chr1:153045393-153045647	K562	blood:	n/a	n/a
9	JUN	chr1:153045361-153045677	K562	blood:	n/a	chr1:153045574-153045583 chr1:153045488-153045496 chr1:153045509-153045517
10	SPI1	chr1:153045299-153045638	K562	blood:	n/a	n/a
11	IRF1	chr1:153045297-153045649	K562	blood:	n/a	n/a
12	IRF1	chr1:153045370-153045981	K562	blood:	n/a	n/a
13	CEBPD	chr1:153045266-153045639	K562	blood:	n/a	n/a
14	FOS	chr1:153045436-153045599	MCF10A-Er-Src	breast:	n/a	chr1:153045574-153045583 chr1:153045488-153045496 chr1:153045509-153045517
15	PML	chr1:153045264-153045622	K562	blood:	n/a	n/a
16	TEAD4	chr1:153045238-153045689	K562	blood:	n/a	n/a
17	GATA2	chr1:153045208-153046108	K562	blood:	n/a	chr1:153045389-153045399 chr1:153045830-153045841 chr1:153045390-153045397 chr1:153045390-153045399
18	FOS	chr1:153045530-153045570	MCF10A-Er-Src	breast:	n/a	n/a
19	RCOR1	chr1:153045323-153045740	K562	blood:	n/a	n/a
20	EP300	chr1:153045337-153045615	K562	blood:	n/a	n/a
21	CCNT2	chr1:153045352-153045547	K562	blood:	n/a	n/a
22	JUND	chr1:153045351-153045999	K562	blood:	n/a	chr1:153045574-153045583 chr1:153045488-153045496 chr1:153045509-153045517
23	TEAD4	chr1:153045190-153046126	K562	blood:	n/a	n/a
24	TAL1	chr1:153045245-153046104	K562	blood:	n/a	chr1:153045952-153045970

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153040069..153041954-chr1:153044290..153046075,2	K562	blood:

Variant related genes	Relation type
SPRR2B	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv464017	chr1:153033406-153099345	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv547920	chr1:153033406-153099345	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv946395	chr1:153042430-153069958	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3334814	chr1:153044548-153067651	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153032200-153053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153045400-153046400	Flanking Active TSS	K562	blood

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