Variant report

Variant	rs73988945
Chromosome Location	chr2:212893099-212893100
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	chr2:212891576..212893248-chr2:212907537..212909277,2	K562	blood:

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

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

rs_ID	r²[population]
rs16847519	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16847543	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847545	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847551	0.93[AFR][1000 genomes]
rs41422148	0.81[EUR][1000 genomes]
rs41476746	0.91[EUR][1000 genomes]
rs59883305	0.86[AFR][1000 genomes]
rs60599619	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6753398	0.88[EUR][1000 genomes]
rs73987232	0.85[EUR][1000 genomes]
rs73988943	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73988954	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7597057	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv875800	chr2:212856539-212896571	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1014136	chr2:212883977-212915640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212887400-212896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:212891800-212893800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:212891800-212894200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:212892000-212893400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:212892000-212893400	Enhancers	HUVEC	blood vessel
6	chr2:212892000-212894000	Enhancers	Osteobl	bone
7	chr2:212892200-212893200	Enhancers	Fetal Heart	heart
8	chr2:212892200-212893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:212892400-212896200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:212892600-212893200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:212892600-212893800	Enhancers	HSMMtube	muscle
12	chr2:212892600-212894800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:212892800-212893600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:212893000-212893400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:212893000-212893400	Enhancers	Brain Anterior Caudate	brain
16	chr2:212893000-212895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:212893000-212896200	Weak transcription	HSMM	muscle
18	chr2:212893000-212896200	Weak transcription	NHLF	lung
19	chr2:212893000-212896400	Weak transcription	Hela-S3	cervix
20	chr2:212893000-212896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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