Variant report

Variant	rs2248811
Chromosome Location	chr3:142606942-142606943
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142547623..142548524-chr3:142606430..142607428,2	MCF-7	breast:
2	chr3:142605846..142608751-chr3:142718093..142722238,5	K562	blood:

Variant related genes	Relation type
ENSG00000268129	Chromatin interaction
ENSG00000163714	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2196900	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2581634	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59716354	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6778966	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv437342	chr3:142605233-142622834	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142603400-142607000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:142603600-142607000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:142605000-142607000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:142605200-142607000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:142605400-142607200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:142605600-142607000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:142605600-142607000	Enhancers	NHEK	skin
8	chr3:142605800-142607000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:142606000-142607000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:142606000-142607000	Enhancers	HSMM	muscle
11	chr3:142606000-142607800	Active TSS	Right Atrium	heart
12	chr3:142606200-142607000	Enhancers	NH-A	brain
13	chr3:142606200-142607200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:142606200-142607400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr3:142606400-142607000	Flanking Active TSS	Hela-S3	cervix
16	chr3:142606400-142608200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:142606600-142607000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr3:142606600-142607000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr3:142606600-142607000	Enhancers	Liver	Liver
20	chr3:142606600-142607400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr3:142606600-142608600	Active TSS	Right Ventricle	heart
22	chr3:142606600-142609000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:142606800-142607000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr3:142606800-142607000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:142606800-142607000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr3:142606800-142607000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr3:142606800-142607000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr3:142606800-142607000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:142606800-142607000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:142606800-142607000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:142606800-142607000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr3:142606800-142607000	Active TSS	Fetal Brain Male	brain
33	chr3:142606800-142607000	Bivalent Enhancer	Fetal Kidney	kidney
34	chr3:142606800-142607000	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
35	chr3:142606800-142607000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr3:142606800-142607000	Bivalent Enhancer	Thymus	Thymus
37	chr3:142606800-142607000	Enhancers	HMEC	breast
38	chr3:142606800-142607000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr3:142606800-142607200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr3:142606800-142607200	Flanking Active TSS	Fetal Brain Female	brain
41	chr3:142606800-142607200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr3:142606800-142607400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr3:142606800-142607400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr3:142606800-142607600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr3:142606800-142607600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr3:142606800-142607600	Flanking Active TSS	Osteobl	bone
47	chr3:142606800-142608000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr3:142606800-142608200	Active TSS	K562	blood
49	chr3:142606800-142608400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr3:142606800-142608400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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