Variant report

Variant	rs58448995
Chromosome Location	chr5:177763336-177763337
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177761012..177763612-chr5:177764691..177767517,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs73344885	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346815	1.00[AFR][1000 genomes]
rs73346817	1.00[AFR][1000 genomes]
rs73346823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346835	0.81[AFR][1000 genomes]
rs73346846	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
5	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv883203	chr5:177682664-177766183	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv883205	chr5:177684682-177777888	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv883206	chr5:177684682-177796121	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1027165	chr5:177693601-177843314	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv984572	chr5:177737015-177763963	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	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	chr5:177757600-177763600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:177758000-177764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:177759200-177764000	Weak transcription	Brain Germinal Matrix	brain
4	chr5:177759200-177765000	Enhancers	Fetal Muscle Leg	muscle
5	chr5:177759400-177783400	Weak transcription	Right Atrium	heart
6	chr5:177759800-177765000	Weak transcription	Left Ventricle	heart
7	chr5:177760000-177764400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:177760600-177764000	Weak transcription	HSMMtube	muscle
9	chr5:177760600-177764200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:177760600-177764600	Weak transcription	Stomach Mucosa	stomach
11	chr5:177760600-177766400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:177760800-177764000	Weak transcription	Fetal Heart	heart
13	chr5:177760800-177764000	Weak transcription	Spleen	Spleen
14	chr5:177761000-177765200	Weak transcription	Right Ventricle	heart
15	chr5:177761200-177764200	Weak transcription	Placenta	Placenta
16	chr5:177761400-177764000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:177761400-177764000	Weak transcription	Gastric	stomach
18	chr5:177761800-177763400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:177762400-177763400	Flanking Active TSS	Liver	Liver
20	chr5:177762600-177775400	Weak transcription	Thymus	Thymus
21	chr5:177762800-177764400	Weak transcription	Fetal Thymus	thymus
22	chr5:177762800-177765200	Enhancers	Fetal Lung	lung
23	chr5:177762800-177766800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:177763000-177764400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:177763000-177767200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:177763200-177764000	Enhancers	Fetal Stomach	stomach
27	chr5:177763200-177766400	Weak transcription	Primary monocytes fromperipheralblood	blood

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