Variant report

Variant	rs73130245
Chromosome Location	chr5:75410366-75410367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16873213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55740528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60210921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73130244	0.89[AMR][1000 genomes]
rs73130267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73130269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73130270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73130272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73130273	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73130276	0.84[AFR][1000 genomes]
rs73764474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv869885	chr5:75365786-75419656	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv2755729	chr5:75400467-75429015	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75408200-75410600	Enhancers	Gastric	stomach
2	chr5:75409400-75411400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:75409400-75412200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:75409600-75410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:75409600-75410600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:75409600-75410600	Enhancers	Duodenum Mucosa	Duodenum
7	chr5:75409800-75410400	Enhancers	Colonic Mucosa	Colon
8	chr5:75409800-75410400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:75409800-75410600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:75409800-75410600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:75409800-75410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:75409800-75410600	Enhancers	Left Ventricle	heart
13	chr5:75409800-75410600	Enhancers	Lung	lung
14	chr5:75409800-75410600	Enhancers	HUVEC	blood vessel
15	chr5:75409800-75411000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:75409800-75411000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:75410000-75410400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:75410000-75410400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr5:75410000-75410400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:75410000-75412800	Enhancers	Stomach Mucosa	stomach
21	chr5:75410200-75410400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:75410200-75410400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:75410200-75410600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:75410200-75410600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:75410200-75410600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr5:75410200-75411000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr5:75410200-75411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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