Variant report

Variant	rs12069012
Chromosome Location	chr1:76809963-76809964
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4628548	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002492	1.00[ASN][1000 genomes]
rs73002499	1.00[ASN][1000 genomes]
rs73002501	1.00[ASN][1000 genomes]
rs73002502	1.00[ASN][1000 genomes]
rs73004208	1.00[ASN][1000 genomes]
rs73004220	0.91[ASN][1000 genomes]
rs7516680	0.82[EUR][1000 genomes]
rs7539896	0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs9437136	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1014231	chr1:76781140-76880630	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76780200-76813800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76780600-76817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76803600-76817400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:76803600-76817400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:76803800-76817600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:76806200-76813800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:76808800-76810400	Enhancers	Primary T cells from cord blood	blood
8	chr1:76809000-76810400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:76809200-76810200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:76809200-76812200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:76809400-76818800	Weak transcription	Gastric	stomach
12	chr1:76809600-76810000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:76809600-76810200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:76809800-76810000	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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