Variant report

Variant	rs11675868
Chromosome Location	chr2:35670916-35670917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10495840	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11124443	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11124444	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11124445	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11689864	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11692039	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12185698	1.00[ASW][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12464263	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17327905	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17399995	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62143282	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62143287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62143288	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62143289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62143291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62143294	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62143296	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62143297	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62143298	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62143300	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62143301	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62143302	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62143303	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62143561	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62143562	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62146622	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62146628	1.00[AFR][1000 genomes]
rs62146647	1.00[AFR][1000 genomes]
rs62146649	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62146650	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010722	chr2:35072575-35950219	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv519522	chr2:35425529-35861883	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008651	chr2:35469467-35896486	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv999139	chr2:35483033-35860024	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv535636	chr2:35483033-35860024	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1005352	chr2:35509710-35680146	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv535637	chr2:35509710-35680146	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv873848	chr2:35641532-35973963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
9	nsv581402	chr2:35670916-35702533	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11675868	CCDC75	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35668600-35680200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:35669400-35671600	Weak transcription	Dnd41	blood
3	chr2:35670000-35671000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:35670400-35672600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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