Variant report

Variant	rs2971884
Chromosome Location	chr2:54904463-54904464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54903620..54905654-chr2:54949868..54952603,2	K562	blood:
2	chr2:54342492..54344341-chr2:54902621..54905084,2	MCF-7	breast:
3	chr2:54903042..54905906-chr2:54907957..54909608,2	MCF-7	breast:
4	chr2:54902287..54904754-chr2:54917097..54919271,2	K562	blood:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1047465	0.82[LWK][hapmap];0.84[YRI][hapmap]
rs2229506	0.84[YRI][hapmap]
rs2941592	0.84[YRI][hapmap]
rs2941593	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs62134708	0.84[AFR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54897200-54907800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:54898200-54907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:54898400-54904600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:54898600-54907800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:54900000-54908600	Enhancers	NHDF-Ad	bronchial
6	chr2:54901000-54907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:54901000-54907800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:54901200-54904600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:54901200-54907800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:54901400-54905000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:54901400-54907600	Weak transcription	HMEC	breast
12	chr2:54901400-54908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:54901800-54907800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:54902000-54906000	Enhancers	Osteobl	bone
15	chr2:54902000-54907000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:54902000-54907000	Weak transcription	Brain Anterior Caudate	brain
17	chr2:54902200-54907800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:54902400-54907000	Weak transcription	Brain Substantia Nigra	brain
19	chr2:54902600-54907600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:54903000-54904800	Enhancers	NHLF	lung
21	chr2:54903000-54907600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:54903200-54904800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:54903400-54905000	Enhancers	HSMMtube	muscle
24	chr2:54903400-54907000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:54903400-54907600	Weak transcription	Liver	Liver
26	chr2:54903400-54907800	Weak transcription	Pancreas	Pancrea
27	chr2:54903400-54908800	Weak transcription	Spleen	Spleen
28	chr2:54903400-54915600	Weak transcription	Right Atrium	heart
29	chr2:54903600-54904600	Enhancers	GM12878-XiMat	blood
30	chr2:54903600-54907000	Weak transcription	Right Ventricle	heart
31	chr2:54904000-54904600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:54904000-54905200	Weak transcription	NH-A	brain
33	chr2:54904000-54907000	Weak transcription	Left Ventricle	heart
34	chr2:54904000-54907000	Weak transcription	Lung	lung
35	chr2:54904200-54907600	Weak transcription	HepG2	liver
36	chr2:54904200-54907800	Weak transcription	Fetal Heart	heart
37	chr2:54904400-54904800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:54904400-54904800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:54904400-54904800	Enhancers	Fetal Muscle Leg	muscle
40	chr2:54904400-54907000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:54904400-54907600	Weak transcription	Fetal Thymus	thymus

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