Variant report

Variant	rs60516209
Chromosome Location	chr5:177862243-177862244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177861712..177865085-chr5:177866946..177869684,3	K562	blood:
2	chr5:177861712..177864496-chr5:177868184..177871226,3	K562	blood:
3	chr5:177844557..177846538-chr5:177860811..177863618,2	K562	blood:
4	chr5:177861063..177863215-chr5:177895852..177898464,2	K562	blood:
5	chr5:177851551..177854301-chr5:177861521..177864094,2	MCF-7	breast:
6	chr5:177861655..177863245-chr5:177875652..177877153,2	K562	blood:

Variant related genes	Relation type
ENSG00000245688	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10039632	0.94[AFR][1000 genomes]
rs10061384	0.92[AFR][1000 genomes]
rs10066218	0.96[AFR][1000 genomes]
rs58054056	0.89[AFR][1000 genomes]
rs58351669	0.89[AFR][1000 genomes]
rs58754033	0.87[AFR][1000 genomes]
rs73336680	0.89[AFR][1000 genomes]
rs73336685	0.89[AFR][1000 genomes]
rs73803100	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv883213	chr5:177811754-177947771	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:177856800-177887200	Weak transcription	Right Atrium	heart
2	chr5:177857000-177862600	Weak transcription	Gastric	stomach
3	chr5:177857000-177863800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:177859200-177862400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr5:177859200-177862600	Enhancers	Fetal Lung	lung
6	chr5:177859200-177866000	Genic enhancers	Fetal Thymus	thymus
7	chr5:177859400-177866600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:177859800-177865000	Genic enhancers	Thymus	Thymus
9	chr5:177860000-177864600	Weak transcription	Lung	lung
10	chr5:177860800-177863000	Weak transcription	Dnd41	blood
11	chr5:177861000-177862600	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:177861200-177862600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:177861200-177863000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:177861200-177863000	Enhancers	Right Ventricle	heart
15	chr5:177861400-177862800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr5:177861400-177863000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:177861600-177862600	Enhancers	Brain Angular Gyrus	brain
18	chr5:177861600-177862600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:177861600-177862600	Enhancers	Fetal Heart	heart
20	chr5:177861600-177862600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:177861600-177863000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:177861600-177870000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:177861800-177862400	Enhancers	Brain Hippocampus Middle	brain
24	chr5:177861800-177862800	Enhancers	Left Ventricle	heart
25	chr5:177861800-177863000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:177861800-177863200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:177862000-177862400	Enhancers	Fetal Brain Male	brain
28	chr5:177862000-177862600	Enhancers	Brain Substantia Nigra	brain
29	chr5:177862000-177863000	Enhancers	Fetal Kidney	kidney
30	chr5:177862200-177862400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:177862200-177862400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:177862200-177862400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr5:177862200-177862600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:177862200-177862600	Enhancers	Spleen	Spleen
35	chr5:177862200-177862800	Bivalent Enhancer	Fetal Stomach	stomach
36	chr5:177862200-177863800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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