Variant report

Variant	rs11064784
Chromosome Location	chr12:119849315-119849316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11612392	0.87[EUR][1000 genomes]
rs12296267	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322637	0.84[AFR][1000 genomes]
rs7303237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv899553	chr12:119837250-119876571	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3447327	chr12:119849256-119849576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119834400-119850800	Weak transcription	Right Ventricle	heart
2	chr12:119845000-119849600	Weak transcription	Lung	lung
3	chr12:119847000-119849400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:119847000-119849600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:119847400-119851000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:119848400-119850000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:119848400-119850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:119848600-119849400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:119848600-119849400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:119848600-119849600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:119848600-119849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:119848600-119853000	Weak transcription	Placenta	Placenta
13	chr12:119849000-119849800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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