Variant report

Variant	rs4764324
Chromosome Location	chr12:10362224-10362225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10459095	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845071	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845072	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11053685	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs11053686	0.85[CHB][hapmap];0.87[ASN][1000 genomes]
rs11053687	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11053689	0.82[JPT][hapmap]
rs12821011	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.91[ASN][1000 genomes]
rs4764322	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4764323	0.82[ASN][1000 genomes]
rs7302325	0.86[ASN][1000 genomes]
rs9300225	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv520713	chr12:10362224-10364362	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4764324	ATN1	cis	cerebellum	SCAN
rs4764324	ACRBP	cis	parietal	SCAN
rs4764324	NANOGNB	cis	parietal	SCAN
rs4764324	C1R	cis	cerebellum	SCAN
rs4764324	KLRC3	cis	cerebellum	SCAN
rs4764324	CDKN1B	cis	parietal	SCAN
rs4764324	KLRK1	cis	parietal	SCAN
rs4764324	CD27	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10358200-10364600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:10358200-10364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:10358600-10364600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:10358800-10364200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:10358800-10364200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:10358800-10365000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:10358800-10365000	Weak transcription	Hela-S3	cervix
8	chr12:10359000-10362600	Weak transcription	Placenta	Placenta
9	chr12:10359200-10364200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:10360200-10364600	Weak transcription	HUVEC	blood vessel
11	chr12:10360600-10364600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:10360800-10364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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