Variant report

Variant	rs12048008
Chromosome Location	chr1:95540138-95540139
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12026574	0.86[ASN][1000 genomes]
rs12027212	0.82[ASN][1000 genomes]
rs12028101	0.86[ASN][1000 genomes]
rs12030774	0.82[ASN][1000 genomes]
rs12037609	0.87[ASN][1000 genomes]
rs12039495	0.84[ASN][1000 genomes]
rs12040604	0.86[ASN][1000 genomes]
rs12090360	0.84[ASN][1000 genomes]
rs6593664	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95539000-95541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:95539200-95541000	Weak transcription	A549	lung
3	chr1:95539200-95541600	Weak transcription	Colonic Mucosa	Colon
4	chr1:95539400-95541000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:95539400-95542000	Enhancers	HepG2	liver
6	chr1:95539600-95540600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:95539800-95549000	Weak transcription	K562	blood

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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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