Variant report

Variant	rs57758873
Chromosome Location	chr2:101036029-101036030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10165326	0.81[ASN][1000 genomes]
rs11902829	0.85[ASN][1000 genomes]
rs1465829	0.92[ASN][1000 genomes]
rs17024153	0.88[ASN][1000 genomes]
rs17024203	0.88[ASN][1000 genomes]
rs17024207	0.92[ASN][1000 genomes]
rs1992174	0.96[ASN][1000 genomes]
rs3748934	0.92[ASN][1000 genomes]
rs4149522	0.92[ASN][1000 genomes]
rs58397194	1.00[ASN][1000 genomes]
rs58552292	0.81[ASN][1000 genomes]
rs58742261	0.81[ASN][1000 genomes]
rs59388202	0.92[ASN][1000 genomes]
rs62148364	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv829583	chr2:101031032-101038750	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101034400-101037000	Weak transcription	Spleen	Spleen
2	chr2:101034400-101038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:101034600-101036200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:101034600-101037000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:101034600-101037400	Weak transcription	Fetal Lung	lung
6	chr2:101034600-101038800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:101034600-101043000	Weak transcription	Placenta	Placenta
8	chr2:101034800-101036200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:101034800-101036200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:101034800-101038800	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:101034800-101043800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:101035000-101040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:101035200-101039800	Weak transcription	NHDF-Ad	bronchial
14	chr2:101035200-101040400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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