Variant report

Variant	rs967270
Chromosome Location	chr5:107002676-107002677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107000146..107001878-chr5:107002234..107005030,2	K562	blood:
2	chr5:106907249..106908833-chr5:107002242..107004376,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10074258	0.83[CEU][hapmap]
rs10077695	0.84[CEU][hapmap]
rs12187753	0.84[CEU][hapmap]
rs13170272	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170464	0.81[EUR][1000 genomes]
rs1490828	0.93[ASN][1000 genomes]
rs17160272	0.80[CEU][hapmap]
rs17160287	0.80[CEU][hapmap]
rs4957705	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66947683	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv1797335	chr5:106981612-107004761	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106989200-107003000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:106989400-107004000	Weak transcription	Fetal Stomach	stomach
3	chr5:106997200-107004200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:106997400-107004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:106997400-107004600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:106998000-107003800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:107000000-107006800	Active TSS	GM12878-XiMat	blood
8	chr5:107000400-107003800	Enhancers	Fetal Heart	heart
9	chr5:107001000-107004000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:107001200-107003600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:107001200-107004000	Weak transcription	Left Ventricle	heart
12	chr5:107001200-107004000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:107001400-107003200	Weak transcription	HUVEC	blood vessel
14	chr5:107001400-107003800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:107001400-107004000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:107001400-107004000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:107001600-107004000	Weak transcription	HSMM	muscle
18	chr5:107001800-107003200	Enhancers	NHDF-Ad	bronchial
19	chr5:107001800-107003600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:107001800-107004400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:107002000-107003000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:107002000-107003200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:107002000-107003800	Enhancers	NHEK	skin
24	chr5:107002000-107004000	Enhancers	Adipose Nuclei	Adipose
25	chr5:107002000-107004000	Enhancers	Fetal Lung	lung
26	chr5:107002000-107004200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:107002200-107004000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:107002200-107005400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:107002400-107003200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:107002400-107004000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:107002400-107004000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:107002400-107004200	Active TSS	HMEC	breast
33	chr5:107002400-107009600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:107002400-107009800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr5:107002600-107002800	Active TSS	A549	lung
36	chr5:107002600-107003800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:107002600-107004000	Weak transcription	NHLF	lung

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