Variant report

Variant	rs57218566
Chromosome Location	chr2:233914068-233914069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233912317..233915187-chr2:233920888..233923160,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11901943	1.00[EUR][1000 genomes]
rs58480585	1.00[EUR][1000 genomes]
rs61351720	1.00[EUR][1000 genomes]
rs6437087	1.00[EUR][1000 genomes]
rs6708294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6712466	1.00[EUR][1000 genomes]
rs73094939	1.00[EUR][1000 genomes]
rs73094940	0.87[AFR][1000 genomes]
rs73094946	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094949	1.00[EUR][1000 genomes]
rs73094951	1.00[EUR][1000 genomes]
rs73094978	1.00[EUR][1000 genomes]
rs73094980	1.00[EUR][1000 genomes]
rs73094987	1.00[EUR][1000 genomes]
rs73101521	1.00[EUR][1000 genomes]
rs73101525	1.00[EUR][1000 genomes]
rs73107126	1.00[EUR][1000 genomes]
rs7569026	1.00[AMR][1000 genomes]
rs9917365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233909400-233915800	Weak transcription	Right Atrium	heart
2	chr2:233912400-233915000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:233912800-233914600	Enhancers	Fetal Muscle Leg	muscle
4	chr2:233913400-233914400	Enhancers	HMEC	breast
5	chr2:233913400-233914400	Enhancers	HSMMtube	muscle
6	chr2:233913400-233916000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:233913600-233914200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:233913600-233914600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:233913600-233914800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr2:233913600-233914800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:233913600-233914800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:233913600-233915000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:233913800-233914200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:233913800-233914400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:233913800-233914600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:233913800-233914600	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:233913800-233914600	Enhancers	HSMM	muscle
18	chr2:233913800-233915000	Enhancers	NHEK	skin
19	chr2:233913800-233916000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:233913800-233916000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:233914000-233914200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:233914000-233914200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:233914000-233914400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:233914000-233914400	Enhancers	Brain Anterior Caudate	brain
25	chr2:233914000-233914400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr2:233914000-233914400	Enhancers	Stomach Mucosa	stomach
27	chr2:233914000-233914600	Enhancers	Fetal Thymus	thymus
28	chr2:233914000-233915600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr2:233914000-233915600	Weak transcription	Esophagus	oesophagus
30	chr2:233914000-233916000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:233914000-233916200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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