Variant report

Variant	rs511033
Chromosome Location	chr1:184775869-184775870
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	IRF1	chr1:184774737-184775973	K562	blood:	n/a	chr1:184775589-184775598 chr1:184775198-184775218
2	GATA2	chr1:184775455-184775901	K562	blood:	n/a	chr1:184775561-184775570 chr1:184775554-184775575
3	NR2F2	chr1:184774596-184775872	K562	blood:	n/a	n/a
4	STAT3	chr1:184774758-184775939	MCF10A-Er-Src	breast:	n/a	chr1:184775567-184775579
5	PML	chr1:184774672-184775987	K562	blood:	n/a	n/a
6	STAT3	chr1:184775467-184775896	MCF10A-Er-Src	breast:	n/a	chr1:184775567-184775579
7	CEBPD	chr1:184775379-184776009	K562	blood:	n/a	chr1:184775741-184775752
8	POLR2A	chr1:184774331-184775960	K562	blood:	n/a	n/a
9	CBX3	chr1:184775410-184775890	K562	blood:	n/a	n/a
10	CTCF	chr1:184774663-184775880	K562	blood:	n/a	chr1:184774886-184774902 chr1:184774887-184774908 chr1:184774885-184774903
11	TRIM28	chr1:184775316-184775942	K562	blood:	n/a	n/a
12	STAT5A	chr1:184775379-184775912	K562	blood:	n/a	chr1:184775567-184775579
13	SPI1	chr1:184775472-184775988	HL-60	blood:	n/a	chr1:184775583-184775596 chr1:184775646-184775659
14	CEBPD	chr1:184775347-184775884	K562	blood:	n/a	chr1:184775741-184775752
15	STAT3	chr1:184775587-184775874	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr1:184775322-184775916	Hela-S3	cervix:	n/a	chr1:184775713-184775730 chr1:184775742-184775753 chr1:184775740-184775751
17	FOS	chr1:184775633-184775872	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr1:184775373-184775965	K562	blood:	n/a	chr1:184775713-184775730 chr1:184775742-184775753 chr1:184775740-184775751
19	POLR2A	chr1:184775345-184776008	HL-60	blood:	n/a	n/a
20	TEAD4	chr1:184774643-184776015	K562	blood:	n/a	n/a
21	JUND	chr1:184774697-184775870	K562	blood:	n/a	n/a
22	ZNF384	chr1:184774739-184776015	K562	blood:	n/a	n/a
23	RCOR1	chr1:184774705-184775870	K562	blood:	n/a	n/a
24	CEBPB	chr1:184774818-184775987	K562	blood:	n/a	chr1:184775713-184775730 chr1:184775742-184775753 chr1:184775740-184775751
25	STAT3	chr1:184775466-184775918	MCF10A-Er-Src	breast:	n/a	chr1:184775567-184775579
26	TAL1	chr1:184774754-184775905	K562	blood:	n/a	n/a
27	CEBPB	chr1:184775567-184775894	A549	lung:	n/a	chr1:184775713-184775730 chr1:184775742-184775753 chr1:184775740-184775751
28	CEBPB	chr1:184775476-184775926	K562	blood:	n/a	chr1:184775713-184775730 chr1:184775742-184775753 chr1:184775740-184775751
29	CEBPB	chr1:184775627-184775890	MCF-7	breast:	n/a	chr1:184775713-184775730 chr1:184775742-184775753 chr1:184775740-184775751
30	FOS	chr1:184775403-184775872	MCF10A-Er-Src	breast:	n/a	n/a
31	CEBPB	chr1:184775565-184775888	IMR90	lung:	n/a	chr1:184775713-184775730 chr1:184775742-184775753 chr1:184775740-184775751

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184774518..184777163-chr1:184941590..184943842,2	K562	blood:

Variant related genes	Relation type
FAM129A	TF binding region
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs489435	0.88[ASN][1000 genomes]
rs538337	0.91[ASN][1000 genomes]
rs569243	0.88[ASN][1000 genomes]
rs603160	0.88[ASN][1000 genomes]
rs611814	0.93[AMR][1000 genomes]
rs641658	0.91[ASN][1000 genomes]
rs642027	0.88[ASN][1000 genomes]
rs644729	0.93[AMR][1000 genomes]
rs654913	0.93[AMR][1000 genomes]
rs657826	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184762000-184781600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184762000-184787800	Weak transcription	Spleen	Spleen
4	chr1:184762400-184789400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:184762600-184792800	Weak transcription	Colonic Mucosa	Colon
6	chr1:184763000-184782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:184763800-184781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:184764800-184779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:184766200-184776600	Weak transcription	Fetal Stomach	stomach
10	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:184770800-184776600	Weak transcription	Right Ventricle	heart
12	chr1:184770800-184777000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:184770800-184787000	Weak transcription	Gastric	stomach
14	chr1:184771800-184782800	Weak transcription	NHLF	lung
15	chr1:184772000-184792000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:184772400-184801800	Weak transcription	Primary T cells from cord blood	blood
17	chr1:184772600-184782600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:184772800-184776800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:184772800-184782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:184772800-184790600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:184773000-184781800	Weak transcription	NHEK	skin
22	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:184773400-184777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:184773600-184780600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:184773800-184776400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:184773800-184776800	Weak transcription	Left Ventricle	heart
27	chr1:184774800-184776400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:184775000-184776000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:184775000-184776000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:184775000-184776000	Enhancers	Liver	Liver
31	chr1:184775000-184776000	Enhancers	GM12878-XiMat	blood
32	chr1:184775000-184776000	Flanking Active TSS	K562	blood
33	chr1:184775000-184776400	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:184775000-184776600	Enhancers	Primary B cells from cord blood	blood
35	chr1:184775000-184776600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:184775000-184776600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:184775200-184776400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr1:184775200-184781200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:184775200-184781600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:184775200-184787400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:184775400-184776000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:184775400-184777000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:184775400-184777600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:184775400-184780000	Weak transcription	Adipose Nuclei	Adipose
45	chr1:184775400-184780000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:184775400-184783000	Weak transcription	NHDF-Ad	bronchial
47	chr1:184775400-184787800	Weak transcription	Esophagus	oesophagus
48	chr1:184775400-184791600	Weak transcription	Stomach Mucosa	stomach
49	chr1:184775600-184776400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:184775600-184776600	Weak transcription	Pancreas	Pancrea

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