Variant report

Variant	rs60965135
Chromosome Location	chr2:54903627-54903628
allele	A/G
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: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1431973	0.89[AFR][1000 genomes]
rs1431974	0.89[AFR][1000 genomes]
rs59061110	0.85[AFR][1000 genomes]
rs60611759	0.89[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54897000-54903800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:54897200-54907800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:54898200-54907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:54898400-54904600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:54898600-54907800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:54900000-54908600	Enhancers	NHDF-Ad	bronchial
7	chr2:54900400-54904000	Enhancers	Lung	lung
8	chr2:54901000-54904000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:54901000-54907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:54901000-54907800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:54901200-54904200	Weak transcription	Fetal Stomach	stomach
12	chr2:54901200-54904600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:54901200-54907800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:54901400-54905000	Weak transcription	Primary B cells from cord blood	blood
15	chr2:54901400-54907600	Weak transcription	HMEC	breast
16	chr2:54901400-54908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:54901800-54907800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:54902000-54906000	Enhancers	Osteobl	bone
19	chr2:54902000-54907000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:54902000-54907000	Weak transcription	Brain Anterior Caudate	brain
21	chr2:54902200-54907800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:54902400-54907000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:54902600-54903800	Weak transcription	Fetal Thymus	thymus
24	chr2:54902600-54904200	Enhancers	Fetal Heart	heart
25	chr2:54902600-54907600	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:54902800-54903800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:54902800-54904000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:54902800-54904000	Enhancers	Left Ventricle	heart
29	chr2:54902800-54904400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:54903000-54904400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:54903000-54904400	Enhancers	HSMM	muscle
32	chr2:54903000-54904800	Enhancers	NHLF	lung
33	chr2:54903000-54907600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:54903200-54904000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:54903200-54904200	Enhancers	HepG2	liver
36	chr2:54903200-54904400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:54903200-54904800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:54903400-54904000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:54903400-54904400	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:54903400-54905000	Enhancers	HSMMtube	muscle
41	chr2:54903400-54907000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:54903400-54907600	Weak transcription	Liver	Liver
43	chr2:54903400-54907800	Weak transcription	Pancreas	Pancrea
44	chr2:54903400-54908800	Weak transcription	Spleen	Spleen
45	chr2:54903400-54915600	Weak transcription	Right Atrium	heart
46	chr2:54903600-54904000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:54903600-54904000	Enhancers	NH-A	brain
48	chr2:54903600-54904600	Enhancers	GM12878-XiMat	blood
49	chr2:54903600-54907000	Weak transcription	Right Ventricle	heart

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