Variant report

Variant	rs2584857
Chromosome Location	chr11:57200148-57200149
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	chr11:57197604..57200405-chr11:57246413..57248386,2	K562	blood:
2	chr11:57199504..57201298-chr11:57434003..57435774,2	K562	blood:

Variant related genes	Relation type
ENSG00000156599	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11229028	1.00[YRI][hapmap]
rs3851116	0.89[EUR][1000 genomes]
rs519628	1.00[CEU][hapmap]
rs62640922	0.89[EUR][1000 genomes]
rs650455	1.00[CEU][hapmap]
rs6591424	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6591426	0.86[EUR][1000 genomes]
rs72923979	0.89[EUR][1000 genomes]
rs72923987	1.00[EUR][1000 genomes]
rs72923988	1.00[EUR][1000 genomes]
rs72923992	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57195000-57201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:57195000-57202400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:57195600-57202400	Weak transcription	Pancreas	Pancrea
4	chr11:57195800-57200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:57195800-57200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:57195800-57202000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:57195800-57202000	Weak transcription	NHEK	skin
8	chr11:57195800-57202400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:57195800-57202400	Weak transcription	Esophagus	oesophagus
10	chr11:57196000-57200200	Weak transcription	HSMMtube	muscle
11	chr11:57196000-57200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:57196000-57201800	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:57197000-57203000	Enhancers	HepG2	liver
14	chr11:57197400-57201600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:57197600-57200800	Weak transcription	Hela-S3	cervix
16	chr11:57198200-57200600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:57198200-57201000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:57198200-57201800	Enhancers	A549	lung
19	chr11:57198200-57202800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:57198400-57200600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:57198400-57203000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:57198600-57202600	Weak transcription	Right Atrium	heart
23	chr11:57199000-57200600	Enhancers	Brain Hippocampus Middle	brain
24	chr11:57199200-57200400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:57199200-57200800	Enhancers	GM12878-XiMat	blood
26	chr11:57199200-57201800	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:57199200-57203800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:57199400-57200200	Enhancers	Brain Anterior Caudate	brain
29	chr11:57199400-57200400	Enhancers	Brain Angular Gyrus	brain
30	chr11:57199400-57200400	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:57199400-57200400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:57199400-57200400	Enhancers	Fetal Muscle Leg	muscle
33	chr11:57199400-57200400	Enhancers	Lung	lung
34	chr11:57199400-57200400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:57199400-57202800	Enhancers	Adipose Nuclei	Adipose
36	chr11:57199400-57203000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:57199400-57203000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:57199400-57203000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:57199400-57203000	Enhancers	Osteobl	bone
40	chr11:57199600-57200200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:57199600-57200200	Enhancers	Brain Substantia Nigra	brain
42	chr11:57199600-57200400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:57199600-57200400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:57199600-57203000	Enhancers	HMEC	breast
45	chr11:57199600-57203000	Enhancers	NHDF-Ad	bronchial
46	chr11:57199800-57200400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:57199800-57200400	Enhancers	Fetal Thymus	thymus
48	chr11:57199800-57200400	Flanking Active TSS	K562	blood
49	chr11:57199800-57200800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:57199800-57200800	Weak transcription	Liver	Liver

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