Variant report

Variant	rs2706192
Chromosome Location	chr1:76572099-76572100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1335739	1.00[AMR][1000 genomes]
rs2577803	0.85[YRI][hapmap]
rs58246454	1.00[AMR][1000 genomes]
rs877017	0.82[YRI][hapmap];1.00[AMR][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:76560200-76573400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:76568600-76572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:76569400-76572800	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:76569400-76573200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:76569400-76575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:76569600-76572200	Weak transcription	Brain Substantia Nigra	brain
10	chr1:76570000-76573000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:76570000-76573600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76570200-76573800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:76570600-76572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:76570800-76574200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:76571000-76572200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:76571000-76573000	Enhancers	Brain Hippocampus Middle	brain
17	chr1:76571000-76573800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:76571200-76575000	Weak transcription	Left Ventricle	heart
19	chr1:76571200-76575200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:76571200-76575400	Weak transcription	Fetal Lung	lung
21	chr1:76571400-76572200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:76571400-76573000	Enhancers	Fetal Kidney	kidney
23	chr1:76571600-76572400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:76571800-76574200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:76571800-76575000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:76572000-76572200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:76572000-76572200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:76572000-76572800	Strong transcription	Primary B cells from cord blood	blood
29	chr1:76572000-76572800	Enhancers	Brain Anterior Caudate	brain
30	chr1:76572000-76574000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr1:76572000-76574200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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