Variant report

Variant	rs73003743
Chromosome Location	chr11:120703243-120703244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120693402..120695956-chr11:120702028..120703706,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1939671	1.00[ASN][1000 genomes]
rs1939672	1.00[ASN][1000 genomes]
rs3020100	1.00[ASN][1000 genomes]
rs3020104	1.00[ASN][1000 genomes]
rs3020184	1.00[ASN][1000 genomes]
rs4075786	1.00[ASN][1000 genomes]
rs4076169	1.00[ASN][1000 genomes]
rs73003745	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003764	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003773	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948024	1.00[ASN][1000 genomes]
rs948025	1.00[ASN][1000 genomes]
rs948026	1.00[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	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr11:120684000-120707600	Weak transcription	Ovary	ovary
2	chr11:120698800-120703400	Enhancers	Brain Germinal Matrix	brain
3	chr11:120699200-120703400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:120699400-120729200	Weak transcription	Fetal Lung	lung
5	chr11:120700800-120705800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:120702000-120703400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:120702000-120703600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:120702400-120703600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:120702800-120704400	Enhancers	Brain Anterior Caudate	brain
10	chr11:120702800-120704400	Enhancers	Brain Hippocampus Middle	brain
11	chr11:120703000-120703400	Enhancers	Fetal Brain Female	brain
12	chr11:120703000-120703600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:120703000-120703600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:120703000-120703600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr11:120703000-120704400	Enhancers	Brain Angular Gyrus	brain
16	chr11:120703000-120706800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:120703200-120703600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:120703200-120703600	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr11:120703200-120703600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:120703200-120703600	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr11:120703200-120703600	Bivalent Enhancer	HepG2	liver
22	chr11:120703200-120703800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:120703200-120704200	Enhancers	Fetal Intestine Small	intestine
24	chr11:120703200-120704400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:120703200-120704400	Enhancers	Fetal Brain Male	brain
26	chr11:120703200-120705800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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