Variant report

Variant	rs545366097
Chromosome Location	chr1:85461914-85461915
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	EP300	chr1:85460996-85462548	GM12878	blood:	n/a	chr1:85461432-85461446 chr1:85461391-85461405 chr1:85462003-85462010
2	EBF1	chr1:85461040-85464248	GM12878	blood:	n/a	chr1:85463075-85463084 chr1:85462912-85462922 chr1:85463073-85463084
3	POLR2A	chr1:85459671-85465061	GM12892	blood:	n/a	n/a
4	TBP	chr1:85461053-85462869	GM12878	blood:	n/a	n/a
5	STAT1	chr1:85461888-85462003	GM12878	blood:	n/a	n/a
6	IKZF1	chr1:85461149-85462086	GM12878	blood:	n/a	chr1:85461802-85461810
7	POLR2A	chr1:85461049-85464327	GM18951	blood:	n/a	n/a
8	TAF1	chr1:85461047-85462045	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:85461494-85464994	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:85460899-85462056	GM12891	blood:	n/a	n/a
11	RELA	chr1:85461100-85462794	GM12878	blood:	n/a	n/a
12	RELA	chr1:85461015-85462796	GM18505	blood:	n/a	n/a
13	BATF	chr1:85461580-85461958	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:85461102-85464291	GM18526	blood:	n/a	n/a
15	EP300	chr1:85461176-85462087	GM12878	blood:	n/a	chr1:85461432-85461446 chr1:85461391-85461405 chr1:85462003-85462010
16	MTA3	chr1:85460680-85464125	GM12878	blood:	n/a	n/a
17	NFIC	chr1:85460718-85462632	GM12878	blood:	n/a	n/a
18	STAT3	chr1:85460957-85462488	GM12878	blood:	n/a	chr1:85461389-85461400
19	STAT5A	chr1:85460893-85463850	GM12878	blood:	n/a	chr1:85463447-85463455 chr1:85461389-85461400
20	CUX1	chr1:85461185-85462123	GM12878	blood:	n/a	n/a
21	ATF2	chr1:85460975-85462328	GM12878	blood:	n/a	n/a
22	SPI1	chr1:85461623-85461941	GM12878	blood:	n/a	chr1:85461871-85461884 chr1:85461743-85461750
23	POLR2A	chr1:85459807-85464317	GM12892	blood:	n/a	n/a
24	RELA	chr1:85461141-85463082	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:85461608-85463709	GM15510	blood:	n/a	n/a
26	RELA	chr1:85461055-85463441	GM15510	blood:	n/a	n/a
27	NFATC1	chr1:85460966-85462398	GM12878	blood:	n/a	n/a
28	BCLAF1	chr1:85461500-85462338	GM12878	blood:	n/a	n/a
29	WRNIP1	chr1:85461590-85462728	GM12878	blood:	n/a	n/a
30	STAT5A	chr1:85460974-85462095	GM12878	blood:	n/a	chr1:85461389-85461400
31	POLR2A	chr1:85459795-85464999	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:85461617-85461928	GM12878	blood:	n/a	n/a
33	RELA	chr1:85461051-85463198	GM19099	blood:	n/a	n/a
34	POLR2A	chr1:85461541-85462034	GM12891	blood:	n/a	n/a
35	BATF	chr1:85461158-85462031	GM12878	blood:	n/a	chr1:85461561-85461572
36	PML	chr1:85461655-85461983	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:85460981-85465011	GM19099	blood:	n/a	n/a
38	CHD2	chr1:85461067-85464026	GM12878	blood:	n/a	chr1:85462833-85462843 chr1:85462244-85462251
39	MEF2A	chr1:85461058-85461983	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:85461031-85464258	GM12892	blood:	n/a	n/a
41	BHLHE40	chr1:85461025-85462056	GM12878	blood:	n/a	n/a
42	MTA3	chr1:85460926-85462831	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:85461655-85462966	GM12878	blood:	n/a	n/a
44	BCLAF1	chr1:85460942-85462854	GM12878	blood:	n/a	chr1:85461391-85461400
45	CHD1	chr1:85459740-85463594	GM12878	blood:	n/a	chr1:85462833-85462843 chr1:85462244-85462251
46	PML	chr1:85460644-85464009	GM12878	blood:	n/a	n/a
47	RUNX3	chr1:85461083-85463825	GM12878	blood:	n/a	n/a
48	RELA	chr1:85461088-85463296	GM18951	blood:	n/a	n/a
49	NFIC	chr1:85461011-85462140	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:85461099-85464971	GM19193	blood:	n/a	n/a

Variant related genes	Relation type
WDR63	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv3515392	chr1:85437980-85465392	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3515393	chr1:85437980-85465392	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	esv3410983	chr1:85461789-85464337	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85454800-85462000	Weak transcription	Spleen	Spleen
2	chr1:85454800-85462200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:85459800-85462000	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr1:85460400-85463800	Active TSS	GM12878-XiMat	blood
5	chr1:85460600-85462200	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr1:85460800-85462200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:85461200-85463400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:85461400-85462200	Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr1:85461400-85462200	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr1:85461600-85462000	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
11	chr1:85461600-85462000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:85461600-85462000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr1:85461600-85462200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr1:85461600-85462200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:85461600-85462200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:85461600-85462200	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:85461600-85462200	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr1:85461600-85462200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr1:85461600-85462600	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr1:85461600-85464400	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr1:85461800-85462000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr1:85461800-85462000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr1:85461800-85462000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:85461800-85462000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:85461800-85462200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:85461800-85462200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:85461800-85462200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:85461800-85462200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:85461800-85462200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:85461800-85462200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:85461800-85462200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:85461800-85462200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr1:85461800-85462400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr1:85461800-85462800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:85461800-85463200	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:85461800-85463200	Active TSS	A549	lung
37	chr1:85461800-85463600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:85461800-85464400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:85461800-85464600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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