Variant report

Variant	rs4545283
Chromosome Location	chr1:196434731-196434732
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1591918	1.00[AFR][1000 genomes]
rs1748509	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2335903	1.00[YRI][hapmap]
rs2477360	1.00[YRI][hapmap]
rs4113171	1.00[AFR][1000 genomes]
rs4348670	1.00[YRI][hapmap]
rs4658036	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs73067631	0.84[AFR][1000 genomes]
rs73067634	0.84[AFR][1000 genomes]
rs73067636	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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196420000-196460800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:196429000-196435600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:196429200-196435400	Weak transcription	Ovary	ovary
4	chr1:196429200-196450400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:196430800-196439600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:196432200-196437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:196433200-196436000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:196433200-196436400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:196433200-196437000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:196433400-196436000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:196433400-196436600	Enhancers	Osteobl	bone
12	chr1:196433600-196434800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:196433600-196435000	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:196433600-196436600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:196433600-196436600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:196433600-196437800	Enhancers	NHDF-Ad	bronchial
17	chr1:196433600-196442200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:196433800-196435000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:196433800-196436600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:196434000-196436600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:196434000-196436600	Enhancers	Fetal Lung	lung
22	chr1:196434200-196435200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:196434200-196435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:196434200-196435400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:196434200-196436000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:196434200-196436000	Weak transcription	Fetal Stomach	stomach
27	chr1:196434200-196450200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:196434200-196459200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:196434400-196434800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr1:196434400-196434800	Weak transcription	NH-A	brain
31	chr1:196434400-196434800	Weak transcription	NHEK	skin
32	chr1:196434400-196434800	Weak transcription	NHLF	lung
33	chr1:196434400-196446800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:196434600-196450200	Weak transcription	Liver	Liver
35	chr1:196434600-196459600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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