Variant report

Variant	rs558573
Chromosome Location	chr11:58990454-58990455
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58985014..58986524-chr11:58989804..58992131,2	K562	blood:
2	chr11:58990211..58992297-chr11:58995837..58998568,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1048444	0.86[CHB][hapmap]
rs10896955	0.86[EUR][1000 genomes]
rs11229895	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1938594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2000875	0.86[CHB][hapmap]
rs3847	0.86[CHB][hapmap]
rs4939267	0.90[CHB][hapmap]
rs544864	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs621162	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115130	0.92[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58980400-58991200	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:58981000-58991600	Weak transcription	Spleen	Spleen
3	chr11:58984400-58990600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:58984600-58990600	Weak transcription	Placenta	Placenta
5	chr11:58984600-58990600	Weak transcription	Fetal Thymus	thymus
6	chr11:58985000-58990600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:58985000-58991600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:58985000-58993200	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:58986000-58991200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:58986800-58991200	Enhancers	GM12878-XiMat	blood
11	chr11:58987000-58991800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:58987200-58992600	Enhancers	NHLF	lung
13	chr11:58987400-58992600	Enhancers	NHDF-Ad	bronchial
14	chr11:58988400-58994000	Enhancers	Adipose Nuclei	Adipose
15	chr11:58988600-58991400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:58988800-58990600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:58988800-58993000	Weak transcription	Lung	lung
18	chr11:58989000-58991200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:58989000-58991600	Weak transcription	Left Ventricle	heart
20	chr11:58989600-58991400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:58989600-58991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:58989600-58992000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:58989600-58992000	Weak transcription	A549	lung
24	chr11:58989600-58992400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:58989800-58990600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:58989800-58990600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:58989800-58990600	Weak transcription	Fetal Stomach	stomach
28	chr11:58989800-58990800	Weak transcription	Stomach Mucosa	stomach
29	chr11:58989800-58991200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:58989800-58992200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:58990000-58991000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr11:58990000-58991600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:58990000-58991600	Weak transcription	HMEC	breast
34	chr11:58990200-58990600	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:58990200-58991800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:58990400-58992200	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:58990400-58993400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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