Variant report

Variant	rs2484699
Chromosome Location	chr1:221083752-221083753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11118625	0.85[ASN][1000 genomes]
rs11118626	0.85[ASN][1000 genomes]
rs1335930	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1537806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484698	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784271	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs2784272	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs2807870	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55703860	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2484699	TGFB2	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221080600-221090200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:221082200-221087200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:221082400-221087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:221082400-221087200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:221082400-221087400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:221082600-221086800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:221082600-221087600	Weak transcription	Liver	Liver
8	chr1:221083400-221083800	Enhancers	HSMM	muscle

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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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