Variant report

Variant	rs60555177
Chromosome Location	chr13:53312146-53312147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53310781..53313187-chr13:53316567..53319461,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12583809	0.89[ASN][1000 genomes]
rs12586125	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1812735	0.87[ASN][1000 genomes]
rs73188579	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73188582	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73188588	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7987731	0.89[ASN][1000 genomes]
rs9536267	0.87[ASN][1000 genomes]
rs9536271	0.89[ASN][1000 genomes]
rs9563117	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568758	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53309400-53312200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:53310600-53312800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr13:53310600-53312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:53310800-53312800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:53311200-53312200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:53311600-53312600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:53311600-53312800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:53311600-53312800	Enhancers	Fetal Brain Female	brain
9	chr13:53311600-53313000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr13:53311800-53312200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:53311800-53312400	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr13:53311800-53312600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr13:53311800-53312800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:53311800-53313000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr13:53311800-53313000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr13:53312000-53312200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr13:53312000-53312200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:53312000-53312200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr13:53312000-53312200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr13:53312000-53312200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
21	chr13:53312000-53312400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr13:53312000-53312800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr13:53312000-53312800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:53312000-53312800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr13:53312000-53312800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:53312000-53312800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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