Variant report

Variant	rs7559696
Chromosome Location	chr2:134512727-134512728
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10496710	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11884849	0.83[EUR][1000 genomes]
rs11888079	0.81[EUR][1000 genomes]
rs12615694	0.81[ASN][1000 genomes]
rs12989210	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7559696	CCDC115	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134506000-134512800	Weak transcription	NHLF	lung
2	chr2:134508800-134513200	Weak transcription	Fetal Brain Female	brain
3	chr2:134509200-134512800	Weak transcription	Fetal Brain Male	brain
4	chr2:134510600-134514200	Enhancers	Fetal Heart	heart
5	chr2:134511600-134512800	Weak transcription	Left Ventricle	heart
6	chr2:134511600-134512800	Weak transcription	Right Atrium	heart
7	chr2:134511800-134512800	Weak transcription	Right Ventricle	heart
8	chr2:134512400-134514200	Enhancers	Osteobl	bone
9	chr2:134512400-134514600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:134512600-134512800	Weak transcription	Fetal Lung	lung
11	chr2:134512600-134513400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:134512600-134514200	Enhancers	Cortex derived primary cultured neurospheres	brain

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Input of quick search could be:

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

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