Variant report

Variant	rs57552288
Chromosome Location	chr1:46998566-46998567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46992924..46995124-chr1:46996235..46998707,2	K562	blood:
2	chr1:46995357..46997930-chr1:46998172..47001101,2	K562	blood:
3	chr1:46993019..46995124-chr1:46997207..47000193,2	K562	blood:
4	chr1:46957792..46960290-chr1:46997960..47000154,2	K562	blood:
5	chr1:46907829..46908706-chr1:46998510..46999437,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12401610	1.00[AMR][1000 genomes]
rs12405092	0.80[AMR][1000 genomes]
rs12405620	1.00[AMR][1000 genomes]
rs12406609	1.00[AMR][1000 genomes]
rs12410292	1.00[AMR][1000 genomes]
rs17101257	1.00[ASN][1000 genomes]
rs58174810	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1010578	chr1:46977818-47010579	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3359320	chr1:46997790-47000338	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46988800-46998600	Weak transcription	Right Ventricle	heart
2	chr1:46989000-46999000	Weak transcription	Gastric	stomach
3	chr1:46989200-46998600	Weak transcription	Right Atrium	heart
4	chr1:46994200-47000800	Weak transcription	K562	blood
5	chr1:46994400-46998800	Weak transcription	Pancreas	Pancrea
6	chr1:46997800-46998600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:46998000-46998600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:46998000-46999000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:46998000-46999800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:46998200-46998600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:46998200-46998600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr1:46998200-46998600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:46998200-46998600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:46998200-46998600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:46998200-46998600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:46998200-46998600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr1:46998200-46998600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:46998200-46998600	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:46998200-46998600	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr1:46998200-46998600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:46998200-46998600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr1:46998200-46998600	Bivalent Enhancer	GM12878-XiMat	blood
23	chr1:46998200-46998800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:46998200-46999000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:46998200-46999000	Bivalent/Poised TSS	Colonic Mucosa	Colon
26	chr1:46998200-46999000	Active TSS	Stomach Smooth Muscle	stomach
27	chr1:46998200-46999200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:46998200-46999200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:46998200-46999200	Enhancers	Spleen	Spleen
30	chr1:46998400-46998600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:46998400-46998600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr1:46998400-46998600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr1:46998400-46998600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr1:46998400-46998600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:46998400-46998600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr1:46998400-46998600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr1:46998400-46998600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
38	chr1:46998400-46998600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr1:46998400-46998600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:46998400-46998600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:46998400-46998600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:46998400-46998600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr1:46998400-46998600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr1:46998400-46998600	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr1:46998400-46998600	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr1:46998400-46998600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr1:46998400-46998600	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr1:46998400-46998600	Bivalent Enhancer	Fetal Kidney	kidney
49	chr1:46998400-46998600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr1:46998400-46998600	Bivalent Enhancer	Placenta	Placenta

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