Variant report

Variant	rs4253227
Chromosome Location	chr10:50667229-50667230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50656731..50658500-chr10:50666252..50669153,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4253059	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4253100	1.00[YRI][hapmap]
rs57460451	0.82[AFR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50656600-50672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:50660400-50672400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:50662000-50669800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:50662200-50669600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:50662200-50669600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:50662200-50669600	Strong transcription	Left Ventricle	heart
7	chr10:50662200-50669800	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr10:50662200-50677800	Weak transcription	Fetal Heart	heart
9	chr10:50662200-50691600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:50662400-50690000	Weak transcription	Stomach Mucosa	stomach
11	chr10:50662400-50693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:50662600-50669600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:50662600-50669600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr10:50662600-50670200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:50662600-50670400	Strong transcription	Osteobl	bone
16	chr10:50662600-50674800	Weak transcription	Colonic Mucosa	Colon
17	chr10:50662600-50676600	Weak transcription	Small Intestine	intestine
18	chr10:50662600-50677600	Weak transcription	NHDF-Ad	bronchial
19	chr10:50662600-50691400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:50662800-50667800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:50663000-50669400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr10:50663000-50669600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:50663000-50675800	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:50663200-50669600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr10:50663200-50672600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr10:50663200-50693800	Weak transcription	HepG2	liver
27	chr10:50663400-50669600	Strong transcription	Brain Anterior Caudate	brain
28	chr10:50663400-50669600	Strong transcription	Fetal Muscle Leg	muscle
29	chr10:50663400-50669800	Strong transcription	HUVEC	blood vessel
30	chr10:50663400-50671200	Strong transcription	HMEC	breast
31	chr10:50663600-50669600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr10:50663600-50669600	Strong transcription	Liver	Liver
33	chr10:50663600-50669600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr10:50663600-50671000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:50663600-50671000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:50663800-50669600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr10:50663800-50669600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr10:50663800-50669600	Strong transcription	Right Ventricle	heart
39	chr10:50663800-50669800	Strong transcription	Primary T cells from cord blood	blood
40	chr10:50663800-50669800	Strong transcription	Adipose Nuclei	Adipose
41	chr10:50663800-50670200	Strong transcription	NHEK	skin
42	chr10:50663800-50671600	Weak transcription	Dnd41	blood
43	chr10:50663800-50672600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:50664000-50669400	Strong transcription	Pancreas	Pancrea
45	chr10:50664000-50669600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr10:50664000-50669600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:50664000-50669600	Strong transcription	Lung	lung
48	chr10:50664000-50677400	Weak transcription	Fetal Kidney	kidney
49	chr10:50664400-50669600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:50664400-50669600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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