Variant report

Variant	rs504481
Chromosome Location	chr12:119935210-119935211
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1716441	0.82[CHD][hapmap];0.95[MEX][hapmap]
rs2519543	0.92[CHB][hapmap];0.87[GIH][hapmap]
rs2727741	0.86[CHB][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap]
rs477467	0.92[CHB][hapmap];0.87[GIH][hapmap]
rs482802	0.92[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs487818	0.92[CHB][hapmap];0.87[GIH][hapmap]
rs518202	0.92[CHB][hapmap];0.87[GIH][hapmap]
rs520809	0.92[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs529501	0.92[CHB][hapmap];0.90[GIH][hapmap]
rs560785	0.92[CHB][hapmap]
rs7968484	0.83[CHB][hapmap]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs504481	SETD1B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119934600-119936000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:119934600-119936200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:119934600-119936400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:119934800-119936000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr12:119934800-119936000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:119934800-119936000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:119934800-119936200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:119934800-119936200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:119934800-119936200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:119934800-119936200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:119935000-119936000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:119935200-119936000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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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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