Variant report

Variant	rs557051
Chromosome Location	chr11:57543988-57543989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57506998..57509291-chr11:57540443..57545321,4	K562	blood:
2	chr11:57541504..57544488-chr11:62607869..62609390,2	MCF-7	breast:
3	chr11:57527377..57534826-chr11:57541861..57548775,13	MCF-7	breast:
4	chr11:57540282..57543092-chr11:57543604..57545694,2	K562	blood:
5	chr11:57543734..57545527-chr11:57568309..57570435,2	K562	blood:
6	chr11:57529498..57532508-chr11:57541660..57544888,3	K562	blood:
7	chr11:57542706..57545310-chr11:57561763..57564745,3	MCF-7	breast:
8	chr11:57533309..57536452-chr11:57541142..57544188,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198561	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10444364	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736687	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10750868	1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896643	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12284427	0.87[AMR][1000 genomes]
rs1313360	1.00[ASN][1000 genomes]
rs1553827	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1798174	1.00[ASN][1000 genomes]
rs1939322	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2860261	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34430954	1.00[ASN][1000 genomes]
rs474073	1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs474464	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505995	1.00[ASN][1000 genomes]
rs523739	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs529838	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs542777	1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552122	1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs554140	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55786036	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55838210	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56879142	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57201273	1.00[ASN][1000 genomes]
rs57260887	1.00[ASN][1000 genomes]
rs576786	0.91[AFR][1000 genomes]
rs57759830	1.00[ASN][1000 genomes]
rs58176671	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs585190	1.00[ASN][1000 genomes]
rs58851976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59046396	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60076210	1.00[ASN][1000 genomes]
rs60282001	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60897155	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61444907	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	1.00[ASN][1000 genomes]
rs627861	1.00[ASN][1000 genomes]
rs635663	1.00[CHB][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs648412	1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103407	1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7105331	1.00[ASN][1000 genomes]
rs7110490	1.00[ASN][1000 genomes]
rs7112557	1.00[ASN][1000 genomes]
rs7118249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118308	1.00[ASN][1000 genomes]
rs7122105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7131175	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73472468	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474417	1.00[ASN][1000 genomes]
rs73474449	1.00[ASN][1000 genomes]
rs73474453	1.00[ASN][1000 genomes]
rs73474454	1.00[ASN][1000 genomes]
rs73474455	1.00[ASN][1000 genomes]
rs73474476	1.00[ASN][1000 genomes]
rs73482748	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482786	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482796	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482801	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7928666	1.00[ASN][1000 genomes]
rs7938752	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947940	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv327	chr11:57532641-57550746	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57530400-57545800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr11:57538400-57546000	Enhancers	Small Intestine	intestine
3	chr11:57538400-57549800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:57538600-57545000	Enhancers	Liver	Liver
5	chr11:57539200-57544000	Enhancers	HepG2	liver
6	chr11:57539600-57552000	Enhancers	Placenta	Placenta
7	chr11:57540200-57545600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:57540400-57544800	Weak transcription	Gastric	stomach
9	chr11:57541200-57545200	Enhancers	Stomach Mucosa	stomach
10	chr11:57541200-57545400	Enhancers	Right Ventricle	heart
11	chr11:57541600-57545600	Enhancers	Fetal Intestine Small	intestine
12	chr11:57541600-57545800	Enhancers	Brain Angular Gyrus	brain
13	chr11:57541600-57550400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:57541800-57544400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:57541800-57545400	Enhancers	Colonic Mucosa	Colon
16	chr11:57541800-57545600	Enhancers	Spleen	Spleen
17	chr11:57541800-57545800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr11:57541800-57549000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:57542000-57545400	Enhancers	Fetal Stomach	stomach
20	chr11:57542400-57545000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:57542400-57545400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:57542400-57545400	Enhancers	Brain Substantia Nigra	brain
23	chr11:57542400-57545400	Enhancers	Ovary	ovary
24	chr11:57542400-57545600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:57542400-57546000	Flanking Active TSS	HUVEC	blood vessel
26	chr11:57542400-57548800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:57542600-57544000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:57542600-57544200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:57542600-57544800	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr11:57542600-57545000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:57542600-57545000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:57542600-57545200	Enhancers	HMEC	breast
33	chr11:57542600-57545400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:57542600-57545400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:57542600-57545400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:57542600-57545400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:57542600-57545400	Enhancers	NHEK	skin
38	chr11:57542600-57546000	Flanking Active TSS	HSMM	muscle
39	chr11:57542600-57549200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:57542600-57550600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:57542800-57544000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
42	chr11:57542800-57544200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:57542800-57544200	Enhancers	Fetal Brain Male	brain
44	chr11:57542800-57544400	Enhancers	Dnd41	blood
45	chr11:57542800-57544600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:57542800-57544600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:57542800-57545200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:57542800-57545400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:57542800-57545400	Flanking Active TSS	A549	lung
50	chr11:57542800-57545400	Enhancers	NHDF-Ad	bronchial

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