Variant report

Variant	rs73783764
Chromosome Location	chr5:126707219-126707220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126673266..126674884-chr5:126706701..126708447,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1529468	0.81[AFR][1000 genomes]
rs59903147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344995	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345001	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346940	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126703400-126707800	Enhancers	Brain Substantia Nigra	brain
3	chr5:126703600-126707400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:126703600-126708400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:126703800-126708200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:126703800-126709600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:126703800-126709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:126703800-126709800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:126704000-126712400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:126704400-126707800	Enhancers	HSMM	muscle
11	chr5:126705600-126707600	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:126705600-126707800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:126706000-126707800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:126706200-126719400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:126706400-126707400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:126706400-126707400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:126706400-126708600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:126706600-126707400	Enhancers	Fetal Muscle Leg	muscle
19	chr5:126706800-126707600	Enhancers	Brain Hippocampus Middle	brain
20	chr5:126706800-126707800	Enhancers	Brain Anterior Caudate	brain
21	chr5:126706800-126707800	Enhancers	HMEC	breast
22	chr5:126706800-126708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:126706800-126708200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:126706800-126711600	Weak transcription	Fetal Brain Female	brain
25	chr5:126707000-126707600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:126707000-126708000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:126707000-126708000	Enhancers	NH-A	brain
28	chr5:126707000-126709800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:126707200-126707400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:126707200-126707400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:126707200-126707400	Enhancers	Ovary	ovary
32	chr5:126707200-126707800	Enhancers	Osteobl	bone
33	chr5:126707200-126708000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:126707200-126708800	Enhancers	HSMMtube	muscle
35	chr5:126707200-126709800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:126707200-126710000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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