Variant report

Variant	rs10496710
Chromosome Location	chr2:134511731-134511732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11884849	0.83[EUR][1000 genomes]
rs11888079	0.81[EUR][1000 genomes]
rs12615694	0.82[ASN][1000 genomes]
rs12989210	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12995146	0.82[EUR][1000 genomes]
rs13011121	0.81[EUR][1000 genomes]
rs13013221	0.81[EUR][1000 genomes]
rs13015979	0.83[EUR][1000 genomes]
rs13032581	0.82[EUR][1000 genomes]
rs13033059	0.83[EUR][1000 genomes]
rs1446752	0.81[EUR][1000 genomes]
rs1867897	0.83[EUR][1000 genomes]
rs62166122	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7559696	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7568496	0.83[EUR][1000 genomes]
rs9917166	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv963883	chr2:134508919-134516201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134506000-134512800	Weak transcription	NHLF	lung
2	chr2:134508800-134512600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:134508800-134513200	Weak transcription	Fetal Brain Female	brain
4	chr2:134509200-134512800	Weak transcription	Fetal Brain Male	brain
5	chr2:134510600-134514200	Enhancers	Fetal Heart	heart
6	chr2:134511000-134512600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:134511400-134511800	Enhancers	Right Ventricle	heart
8	chr2:134511600-134512800	Weak transcription	Left Ventricle	heart
9	chr2:134511600-134512800	Weak transcription	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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