Variant report

Variant	rs62389412
Chromosome Location	chr5:177858269-177858270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10050728	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063441	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063674	1.00[ASN][1000 genomes]
rs11956256	1.00[ASN][1000 genomes]
rs11956284	1.00[ASN][1000 genomes]
rs17081205	0.92[EUR][1000 genomes]
rs28657401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673403	1.00[ASN][1000 genomes]
rs4357054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4541676	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976725	1.00[ASN][1000 genomes]
rs59697910	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60667997	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60745554	0.87[EUR][1000 genomes]
rs62389411	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62389413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6422347	0.91[EUR][1000 genomes]
rs6601236	0.91[EUR][1000 genomes]
rs6601237	0.91[EUR][1000 genomes]
rs6882668	0.91[EUR][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	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	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177848800-177859800	Strong transcription	Thymus	Thymus
2	chr5:177853200-177858400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:177856000-177861400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:177856400-177861600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:177856600-177861000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:177856800-177861200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:177856800-177861600	Weak transcription	Brain Angular Gyrus	brain
8	chr5:177856800-177861600	Weak transcription	Fetal Heart	heart
9	chr5:177856800-177861800	Weak transcription	Left Ventricle	heart
10	chr5:177856800-177887200	Weak transcription	Right Atrium	heart
11	chr5:177857000-177859400	Weak transcription	Right Ventricle	heart
12	chr5:177857000-177859600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:177857000-177861600	Weak transcription	Psoas Muscle	Psoas
14	chr5:177857000-177862600	Weak transcription	Gastric	stomach
15	chr5:177857000-177863800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:177857200-177858400	Weak transcription	Fetal Stomach	stomach
17	chr5:177857200-177859200	Strong transcription	Fetal Thymus	thymus
18	chr5:177857200-177859400	Weak transcription	Liver	Liver
19	chr5:177857200-177859600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:177857200-177862000	Weak transcription	Fetal Kidney	kidney
21	chr5:177857600-177859200	Weak transcription	Fetal Lung	lung
22	chr5:177857800-177858400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:177858200-177859600	Weak transcription	Lung	lung

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