Variant report

Variant	rs11231322
Chromosome Location	chr11:62814234-62814235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62814219-62814264	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000253547	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10736724	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10897369	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs1108539	0.81[YRI][hapmap]
rs11231311	0.98[ASN][1000 genomes]
rs11231341	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11231373	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11231374	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs11231375	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11231379	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12364908	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs1939743	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1939747	1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs1939748	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1939749	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs1939757	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1939758	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1939771	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1944040	0.82[CEU][hapmap]
rs1944042	0.87[EUR][1000 genomes]
rs1944043	0.87[EUR][1000 genomes]
rs2155325	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4121458	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs4297470	0.82[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs4345971	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4366490	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4393318	1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs4405319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap]
rs4963246	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs4963247	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4963248	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7106537	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7948969	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs948060	0.82[CHB][hapmap];0.90[JPT][hapmap]

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	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
2	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
3	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv523357	chr11:62801148-62838511	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1045308	chr11:62803635-63109338	Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv541059	chr11:62803635-63109338	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3470674	chr11:62805647-62828111	Inactive region	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv3470685	chr11:62805647-62828111	Inactive region	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv2762914	chr11:62813912-62825164	Inactive region	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11231322	C11orf83	cis	cerebellum	SCAN
rs11231322	SNORA57	cis	cerebellum	SCAN
rs11231322	SLC22A25	cis	cerebellum	SCAN
rs11231322	SPTBN2	cis	parietal	SCAN
rs11231322	SNX32	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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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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