Variant report

Variant	rs73239720
Chromosome Location	chr7:127762922-127762923
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	chr7:127734758..127738581-chr7:127762335..127766176,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10258271	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954167	0.82[EUR][1000 genomes]
rs10954168	0.81[EUR][1000 genomes]
rs11979599	0.82[EUR][1000 genomes]
rs17735366	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322734	0.83[EUR][1000 genomes]
rs3808053	0.82[EUR][1000 genomes]
rs4728088	0.82[EUR][1000 genomes]
rs4731400	0.85[EUR][1000 genomes]
rs4731403	0.82[EUR][1000 genomes]
rs4731405	0.82[EUR][1000 genomes]
rs57463770	0.96[EUR][1000 genomes]
rs59096474	0.82[EUR][1000 genomes]
rs60087663	0.93[EUR][1000 genomes]
rs73226605	0.85[EUR][1000 genomes]
rs73226606	0.85[EUR][1000 genomes]
rs73226613	0.83[EUR][1000 genomes]
rs73238099	0.82[EUR][1000 genomes]
rs73238100	0.82[EUR][1000 genomes]
rs73239707	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73239713	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73239718	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7790439	0.85[EUR][1000 genomes]
rs7790858	0.85[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127761000-127763400	Enhancers	Fetal Brain Male	brain
2	chr7:127761000-127763400	Enhancers	Spleen	Spleen
3	chr7:127761000-127763600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:127761400-127763000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:127761400-127763400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:127761400-127763400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:127761800-127763000	Enhancers	Esophagus	oesophagus
8	chr7:127761800-127763200	Enhancers	Placenta	Placenta
9	chr7:127761800-127763400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr7:127761800-127764200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:127762000-127764800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:127762200-127763000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr7:127762200-127764200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:127762200-127764200	Bivalent Enhancer	HepG2	liver
15	chr7:127762400-127763000	Enhancers	Adipose Nuclei	Adipose
16	chr7:127762400-127764000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:127762400-127772000	Weak transcription	Right Atrium	heart
18	chr7:127762600-127763000	Active TSS	Primary B cells from cord blood	blood
19	chr7:127762600-127763200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:127762600-127763600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:127762800-127763200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:127762800-127763400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:127762800-127764000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:127762800-127764200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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