Variant report

Variant	rs62637607
Chromosome Location	chr13:53286822-53286823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17541350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34494025	1.00[AFR][1000 genomes]
rs4360822	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885420	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4885947	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53256600-53297800	Weak transcription	Pancreas	Pancrea
2	chr13:53260800-53297000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:53272400-53297400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:53280400-53287400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:53280600-53294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:53283400-53294600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:53285200-53287400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:53285200-53287400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:53285400-53287000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:53285400-53287000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:53285400-53287000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:53285400-53287200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:53285400-53288400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr13:53285600-53287000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:53285600-53287000	Enhancers	NHEK	skin
16	chr13:53285600-53291000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr13:53286000-53287000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:53286200-53287000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:53286200-53287400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:53286200-53287800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:53286400-53287400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:53286800-53287200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:53286800-53288000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:53286800-53288600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:53286800-53310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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