Variant report

Variant	rs73313539
Chromosome Location	chr20:23080928-23080929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23079507..23082069-chr20:23090544..23092164,2	K562	blood:
2	chr20:23080110..23082822-chr20:23132025..23133564,2	K562	blood:
3	chr20:23080717..23083720-chr20:23084515..23087690,4	K562	blood:
4	chr20:23029285..23030883-chr20:23079788..23082337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1331065	1.00[EUR][1000 genomes]
rs1331069	1.00[EUR][1000 genomes]
rs16984879	1.00[EUR][1000 genomes]
rs16984883	1.00[EUR][1000 genomes]
rs16984886	1.00[EUR][1000 genomes]
rs16984958	1.00[EUR][1000 genomes]
rs4289261	1.00[EUR][1000 genomes]
rs57380874	1.00[EUR][1000 genomes]
rs58224951	1.00[EUR][1000 genomes]
rs59750797	1.00[EUR][1000 genomes]
rs6048583	1.00[EUR][1000 genomes]
rs61060770	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61201127	1.00[EUR][1000 genomes]
rs7273871	1.00[EUR][1000 genomes]
rs73297706	1.00[EUR][1000 genomes]
rs73305567	1.00[EUR][1000 genomes]
rs73309806	1.00[EUR][1000 genomes]
rs73309887	1.00[EUR][1000 genomes]
rs73309897	1.00[EUR][1000 genomes]
rs73309899	1.00[EUR][1000 genomes]
rs73311903	1.00[EUR][1000 genomes]
rs73311905	1.00[EUR][1000 genomes]
rs73313506	1.00[EUR][1000 genomes]
rs73313513	1.00[EUR][1000 genomes]
rs73313534	1.00[EUR][1000 genomes]
rs844810	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23073000-23087000	Weak transcription	Gastric	stomach
3	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
4	chr20:23074600-23082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:23074600-23083000	Weak transcription	Right Atrium	heart
6	chr20:23075000-23083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:23075000-23085600	Weak transcription	Fetal Lung	lung
8	chr20:23076600-23082400	Weak transcription	HUVEC	blood vessel
9	chr20:23077400-23084800	Enhancers	Placenta	Placenta
10	chr20:23077800-23082400	Weak transcription	Left Ventricle	heart
11	chr20:23079000-23081600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr20:23079000-23084400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:23079200-23081000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr20:23079200-23082600	Weak transcription	Lung	lung
15	chr20:23079200-23083400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr20:23079400-23082000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr20:23079800-23083400	Enhancers	Esophagus	oesophagus
18	chr20:23080000-23082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:23080000-23082200	Enhancers	HMEC	breast
20	chr20:23080000-23082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:23080200-23081200	Enhancers	Adipose Nuclei	Adipose
22	chr20:23080200-23082000	Enhancers	Fetal Stomach	stomach
23	chr20:23080400-23081000	Enhancers	Fetal Thymus	thymus
24	chr20:23080400-23081000	Enhancers	Spleen	Spleen
25	chr20:23080600-23081200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:23080600-23081200	Flanking Active TSS	NHEK	skin
27	chr20:23080600-23081400	Enhancers	Fetal Muscle Leg	muscle
28	chr20:23080600-23081600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:23080600-23081800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr20:23080800-23081800	Enhancers	Fetal Muscle Trunk	muscle

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