Variant report

Variant	rs158547
Chromosome Location	chr20:52641703-52641704
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	chr20:52640367..52641889-chr20:52645625..52647973,2	K562	blood:
2	chr20:52637571..52639350-chr20:52639396..52641959,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs158551	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16998745	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs182345	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs208386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276490	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299716	0.88[EUR][1000 genomes]
rs290460	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs290461	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs290469	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs290470	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs457900	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs458739	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58051555	0.88[EUR][1000 genomes]
rs6127064	0.88[EUR][1000 genomes]
rs61368357	0.83[EUR][1000 genomes]
rs73622293	0.83[EUR][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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
3	esv2763673	chr20:52637074-52668126	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv3419	chr20:52637581-52672115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52618800-52644400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:52634800-52645400	Weak transcription	Fetal Lung	lung
4	chr20:52635800-52641800	Enhancers	Brain Substantia Nigra	brain
5	chr20:52640400-52642200	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr20:52640800-52642000	Enhancers	Brain Cingulate Gyrus	brain
7	chr20:52640800-52643800	Enhancers	Fetal Brain Male	brain
8	chr20:52641000-52642000	Enhancers	NHDF-Ad	bronchial
9	chr20:52641000-52643200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:52641000-52643400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:52641200-52642000	Enhancers	HSMMtube	muscle
12	chr20:52641200-52642400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr20:52641200-52642400	Enhancers	Osteobl	bone
14	chr20:52641200-52644400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr20:52641400-52641800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:52641400-52641800	Weak transcription	Brain Angular Gyrus	brain
17	chr20:52641400-52641800	Enhancers	Fetal Kidney	kidney
18	chr20:52641400-52642000	Enhancers	Colon Smooth Muscle	Colon
19	chr20:52641400-52642400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr20:52641400-52642600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr20:52641400-52642600	Enhancers	NH-A	brain
22	chr20:52641400-52646000	Active TSS	Brain Anterior Caudate	brain
23	chr20:52641600-52641800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr20:52641600-52642200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:52641600-52642400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:52641600-52642400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr20:52641600-52642400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr20:52641600-52642400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr20:52641600-52642400	Enhancers	Fetal Brain Female	brain
30	chr20:52641600-52643400	Enhancers	HSMM	muscle
31	chr20:52641600-52646000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr20:52641600-52676400	Weak transcription	Stomach Mucosa	stomach

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